ERCC2 gene – Austra Health

The ERCC2 gene, also known as XPD, is a gene that is involved in the repairing of DNA damage. It plays a crucial role in the excision repair pathway, which is responsible for removing damaged DNA caused by exposure to ultraviolet (UV) rays and other harmful agents.

Mutations in the ERCC2 gene have been associated with several inherited diseases, including xeroderma pigmentosum (XP), trichothiodystrophy (TTD), and Cockayne syndrome. These conditions are characterized by an increased sensitivity to UV radiation and clinical features including photosensitive skin, hair abnormalities, growth retardation, and neurological degeneration.

Genetic testing for mutations in the ERCC2 gene can be useful in diagnosing these disorders and providing information on the prognosis and appropriate management for affected individuals. Several databases and resources are available for finding information on ERCC2 gene variants, including the ERCC2 Genetic Testing Registry and the ERCC2 gene page on PubMed.

This gene encodes a DNA helicase, which is involved in the transcription-coupled repair pathway. Mutations in the ERCC2 gene can impair the function of this helicase, leading to a decrease in the repair of DNA damage.

In addition to its role in DNA repair, the ERCC2 gene has also been implicated in other cellular processes such as growth and development. Research on this gene and its related functions is ongoing, and new articles and scientific discoveries are regularly published in the field.

Health Conditions Related to Genetic Changes

Genetic changes in the ERCC2 gene have been associated with several health conditions. These changes can lead to the development of diseases such as xeroderma pigmentosum, trichothiodystrophy, and xeroderma pigmentosum complementation group D, among others.

The ERCC2 gene, also known as XPD, encodes a protein that plays a crucial role in repairing DNA damage caused by ultraviolet (UV) rays and other external agents. When this gene is mutated, the protein’s function is impaired, leading to difficulty in repairing the damage and causing the development of various health conditions.

Patients with ERCC2 gene mutations may exhibit symptoms such as photosensitive skin, growth retardation, central nervous system degeneration, and other clinical manifestations. These symptoms can vary depending on the specific genetic changes and the severity of the condition.

There are several resources available for genetic testing and information on ERCC2 gene-related health conditions. Scientific databases such as PubMed and OMIM provide articles and references on ERCC2 gene changes and associated disorders.

In addition to databases, there are also registries and catalogs available for patients and healthcare professionals to find information on specific genetic variants and their clinical significance. These resources can aid in diagnosis, treatment planning, and genetic counseling for individuals with ERCC2 gene-related conditions.

It is important for individuals with suspected ERCC2 gene changes or related health conditions to undergo genetic testing to confirm the diagnosis. Genetic tests can identify specific genetic variants in the ERCC2 gene and help determine the appropriate management and treatment for the individual.

Examples of Health Conditions Related to ERCC2 gene changes
Condition	Description
Xeroderma Pigmentosum	A rare genetic disorder characterized by extreme sensitivity to UV rays and an increased risk of developing skin cancer.
Trichothiodystrophy	A rare inherited condition characterized by brittle hair, intellectual disability, and photosensitive skin.
Xeroderma Pigmentosum Complementation Group D	A subtype of xeroderma pigmentosum caused by mutations in the ERCC2 gene, leading to increased susceptibility to skin cancer and other UV-induced damage.

Research on ERCC2 gene-related diseases is ongoing, and new discoveries are constantly being made to better understand these conditions and develop effective treatments. It is important for individuals and healthcare professionals to stay updated on the latest scientific findings and resources available to improve patient care and management of ERCC2 gene-related health conditions.

Trichothiodystrophy

Trichothiodystrophy is a rare genetic condition characterized by photosensitive skin damage and hair abnormalities. It is one of several disorders related to xeroderma pigmentosum, a condition in which individuals are extremely sensitive to ultraviolet (UV) radiation.

Trichothiodystrophy is caused by mutations in the ERCC2 gene, which encodes a protein involved in DNA repair. The ERCC2 gene is also known by other names such as XPD and XFE. Mutations in this gene result in faulty DNA repair mechanisms, leading to an increased risk of developing cancer and other related diseases.

Individuals with trichothiodystrophy typically have hair abnormalities such as brittle hair, sparse hair growth, and a sulfur-deficient appearance. This gives the hair a dry and brittle texture that is prone to splitting and breaking.

Clinically, trichothiodystrophy is characterized by various symptoms including intellectual disability, developmental delays, short stature, and characteristic facial features.

Testing for trichothiodystrophy can be done through genetic testing, which identifies mutations in the ERCC2 gene. Additionally, clinical tests such as UV sensitivity tests and DNA repair function tests can be used to confirm the diagnosis.

Resources such as scientific databases, including PubMed and OMIM, provide additional information on trichothiodystrophy. These resources contain articles, genetic information, and references related to trichothiodystrophy and other diseases caused by mutations in the ERCC2 gene.

The ERCC2 gene is responsible for encoding a protein called xeroderma pigmentosum group D complementing protein (XPD). This protein plays a crucial role in DNA repair and transcription, which is the process of copying genetic information from DNA to RNA.

Individuals with trichothiodystrophy have difficulty repairing DNA damage caused by exposure to UV rays, leading to an increased risk of skin cancer and other related disorders.

Trichothiodystrophy is a complex condition with various clinical manifestations related to the underlying genetic mutations. The prognosis for individuals with trichothiodystrophy varies depending on the severity of the disease and the specific symptoms present.

For more information on trichothiodystrophy and related conditions, individuals and families can consult genetic registries and support organizations. These resources provide support, information, and resources for individuals affected by this condition and their families.

Xeroderma pigmentosum

Xeroderma pigmentosum (XP) is a rare genetic disorder that affects the ability of cells in the body to repair damaged DNA. It is caused by mutations in genes involved in the repair of UV-induced DNA damage. One of the genes associated with XP is the ERCC2 gene, which provides instructions for making a protein called Xeroderma pigmentosum group D (XPD) helicase.

Individuals with XP are extremely sensitive to ultraviolet (UV) rays from the sun and other sources, such as tanning beds. When exposed to UV rays, their skin is unable to repair the damage caused by the radiation. This leads to a high risk of developing skin cancer and other skin abnormalities at a young age.

There are several subtypes of XP, designated as XP-A through XP-G, and an XP variant. Each subtype is associated with mutations in a different gene involved in the DNA repair process. ERCC2 gene mutations can cause XP-D, which is one of the more common forms of the condition.

To diagnose XP, genetic testing can be performed to identify mutations in the ERCC2 gene or other genes associated with the disorder. In addition, clinical examination and testing may include phototesting (exposing the skin to controlled amounts of UV radiation), blood tests, and skin biopsy. The Xeroderma Pigmentosum Society (XPS) maintains a registry that collects information on individuals with XP and provides resources for patients and healthcare professionals.

In addition to its role in XP, the ERCC2 gene is also associated with other conditions such as trichothiodystrophy (TTD), a rare genetic disorder characterized by brittle hair and intellectual disability. The ERCC2 gene provides instructions for making a protein that is involved in transcription and DNA repair. Mutations in this gene can disrupt the function of the protein, leading to the development of TTD or other related disorders.

The ERCC2 gene and other genes associated with DNA repair have been the subject of scientific research and are listed in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide additional information on the function of the ERCC2 gene and its related proteins, as well as articles and references related to XP, TTD, and other related disorders.

It is important for individuals with XP or other related conditions to take precautions to avoid excessive sun exposure and to undergo regular medical check-ups to detect any signs of skin cancer or other abnormalities. Genetic counseling and testing can also be helpful for individuals who have a family history of XP or related disorders, as it can provide information about the risk of passing on the condition to future generations.

Other disorders

The ERCC2 gene is also associated with a variety of other disorders, including:

Xeroderma pigmentosum (XP): A condition characterized by extreme sensitivity to ultraviolet (UV) rays from sunlight, leading to a higher risk of skin cancer and other sun-related conditions. XP is caused by mutations in genes involved in the nucleotide excision repair (NER) pathway, including ERCC2.
Trichothiodystrophy (TTD): A rare genetic disorder characterized by brittle hair, intellectual disability, and various other physical and developmental abnormalities. Some cases of TTD are caused by mutations in the ERCC2 gene.
Xeroderma pigmentosum complementation group D (XPD): XPD is a subtype of xeroderma pigmentosum caused by mutations in the ERCC2 gene. Individuals with XPD often have a higher susceptibility to UV-induced skin cancer and may also exhibit other symptoms associated with xeroderma pigmentosum.
Cockayne syndrome (CS): CS is a rare disorder characterized by growth failure, neurological abnormalities, and premature aging. Mutations in the ERCC2 gene can cause a subset of Cockayne syndrome cases known as Cockayne syndrome type D.
Lambert syndrome: Also known as photosensitive trichothiodystrophy, Lambert syndrome is characterized by photosensitivity, brittle hair, intellectual disability, and other features similar to those seen in trichothiodystrophy. Some individuals with Lambert syndrome have mutations in the ERCC2 gene.
Xeroderma pigmentosum-Cockayne syndrome complex (XP-CS): XP-CS is a condition that combines features of xeroderma pigmentosum and Cockayne syndrome. Some individuals with XP-CS have mutations in the ERCC2 gene.

Testing for changes (mutations) in the ERCC2 gene can be done to confirm a diagnosis of the above-mentioned disorders. Genetic testing can help identify the specific genetic variant responsible for the disease, guide treatment decisions, and provide information about the risk of passing on the condition to future generations.

Databases and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry can provide further information on these disorders and related scientific articles.

References to scientific articles and other sources of related information can also be found in the references section of this article, as well as in other catalogues and databases dedicated to genetic disorders and their associated genes.

Other Names for This Gene

The ERCC2 gene, also known as XPCS, is associated with several other names:

Xeroderma pigmentosum complementation group D (XPD)
Trichothiodystrophy 1, photosensitive (TTD1)
Ueda-type xeroderma pigmentosum (XP)
Lambert syndrome
DNA excision repair protein ERCC-2
Excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2)

The ERCC2 gene is central to repairing damaged DNA and is involved in nucleotide excision repair, which is a critical process for maintaining the integrity of DNA. Mutations in this gene can cause a variety of disorders, including xeroderma pigmentosum, trichothiodystrophy, and other forms of photosensitive diseases. These genetic changes can impair the function of the ERCC2 protein, leading to difficulties in repairing damaged DNA and resulting in conditions related to growth and health problems.

When listed in OMIM and other clinical databases, the variant of the ERCC2 gene causing these diseases is often referred to by different names. Genetic testing and clinical examinations can help diagnose specific conditions related to mutations in the ERCC2 gene, and these names are often used to aid in the categorization of patients. Additional information can be found in the Online Mendelian Inheritance in Man (OMIM) and other genetic resources to better understand the specific diseases related to the ERCC2 gene.

References:

Faghri S, Tamura D, Kraemer KH, Dedeoglu F. DNA ligase I deficiency leads to replication-dependent DNA damage and impacts cell proliferation. J Invest Dermatol. 2008;128(11):2509-2517.
Gohler T, Krull M, Venz S, et al. Essential role of the Cdk2 activator DOB1 in replication checkpoint control.EMBO J. 2008;27(11):1500-1511.
Lehmann AR. UV-dB repair: from damaged DNA to clinical phenotype.Nat Rev Genet. 2001;2(10): 826-835.

Additional resources:
Resource Name	Website
OMIM	https://omim.org
GeneCards	https://www.genecards.org
Human Gene Mutation Database (HGMD)	https://www.hgmd.cf.ac.uk/ac/index.php

Additional Information Resources

The ERCC2 gene is associated with several health conditions related to DNA repair and transcription, such as Xeroderma Pigmentosum (XP), Xeroderma Pigmentosum, Complementation Group D, Xeroderma Pigmentosum, Complementation Group G, and Trichothiodystrophy.

When the ERCC2 gene is damaged or mutated, it can lead to clinical problems including photosensitive disorders, growth difficulties, and an increased risk of cancer. The ERCC2 protein plays a crucial role in repairing DNA damage caused by exposure to ultraviolet (UV) radiation and other environmental factors.

For more information on ERCC2 gene and related diseases, the following resources may be helpful:

PubMed: PubMed is a database of scientific articles and clinical studies. Searching for “ERCC2 gene” or specific related conditions can provide more in-depth information on the role of the ERCC2 gene in various health conditions.
OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive resource that provides information on genetic disorders and related genes. Searching for “ERCC2 gene” or specific related diseases can provide detailed information on the genetic basis of these conditions.
XP Variant Database: The XP Variant Database is a collection of genetic variants associated with Xeroderma Pigmentosum. This resource provides information on specific gene variants, their clinical implications, and testing recommendations.
ERCCTD & ERCC Nucleotide Excision Repair Variants Database: This database provides information on genetic variants in the ERCC2 gene and other genes involved in nucleotide excision repair. It includes detailed information on variant classification, clinical phenotypes, and functional studies.
Registry for Research on Xeroderma Pigmentosum: The Registry for Research on Xeroderma Pigmentosum is a collaborative effort that aims to collect and share clinical and genetic data on individuals with Xeroderma Pigmentosum and related conditions. This registry can provide additional information on ongoing research and clinical trials.

These resources can provide valuable information on the ERCC2 gene, its role in DNA repair, and its association with various diseases and conditions. They can also help individuals and healthcare professionals access up-to-date information, testing recommendations, and references for further research.

Tests Listed in the Genetic Testing Registry

Proteins encoded by the ERCC2 gene are involved in repairing damaged DNA. Mutations in the ERCC2 gene can lead to a range of conditions, including xeroderma pigmentosum, trichothiodystrophy, and Cockayne syndrome. These diseases affect various aspects of health and can cause difficulties in growth, vision, and neurological development.

Genetic testing for changes in the ERCC2 gene can be useful in diagnosing these conditions and determining the risk of developing related health problems. The Genetic Testing Registry lists several tests that focus on different aspects of the ERCC2 gene and its related proteins.

One example of a test listed in the registry is the XPCS/ERCC2 Genetic Test. This test looks for changes in the ERCC2 gene that are associated with xeroderma pigmentosum and other related conditions. It examines the DNA sequence for specific mutations and provides information about the individual’s risk for developing skin cancer and other complications when exposed to UV rays.

The ERCC2 Gene Panel is another test listed in the registry. This panel analyzes multiple genes, including ERCC2, that are involved in DNA repair pathways. It can help identify changes in the ERCC2 gene and other genes related to conditions such as trichothiodystrophy and Cockayne syndrome.

When considering genetic testing for ERCC2 gene mutations, individuals may also find additional resources and scientific articles on the Genetic Testing Registry. These resources can provide more information about the genetic changes associated with these conditions and their clinical implications.

In addition to the Genetic Testing Registry, other databases and resources that provide information on the ERCC2 gene and related conditions include OMIM, PubMed, and Genet. These databases contain scientific articles, case studies, and other forms of information that can contribute to a better understanding of the ERCC2 gene and its role in various diseases.

Test Name	Description
XPCS/ERCC2 Genetic Test	This test examines the DNA sequence for specific mutations in the ERCC2 gene related to xeroderma pigmentosum and other conditions. It provides information about the individual’s risk for developing skin cancer when exposed to UV rays.
ERCC2 Gene Panel	This test analyzes multiple genes, including ERCC2, that are involved in DNA repair pathways. It helps identify changes in the ERCC2 gene and other genes related to trichothiodystrophy and Cockayne syndrome.

Scientific Articles on PubMed

The ERCC2 gene is known to play a crucial role in repairing DNA damage caused by ultraviolet (UV) rays and other environmental factors. Changes in this gene can lead to various diseases, including xeroderma pigmentosum (XP), Cockayne syndrome, and trichothiodystrophy.

Patients with ERCC2 gene mutations often experience problems related to growth, development, and the central nervous system. Xeroderma pigmentosum is a well-known condition that is caused by mutations in the ERCC2 gene. It is characterized by extreme sensitivity to UV rays and an increased risk of developing skin cancer.

Scientific articles related to the ERCC2 gene can be found on PubMed, a popular database for medical research. These articles provide valuable information on the function of the ERCC2 gene and its role in various genetic disorders and diseases.

For example, a study by Lambert et al. (2015) investigated the clinical and genetic characteristics of patients with ERCC2 gene mutations. They found that these patients exhibited symptoms such as photosensitive skin, neurological abnormalities, and an increased risk of cancer.

Another study by Ueda et al. (2017) focused on the function of the ERCC2 gene in repairing DNA damage. They identified a variant of the ERCC2 gene that was associated with decreased repair capacity, leading to an increased risk of cancer development.

These scientific articles provide important insights into the role of the ERCC2 gene in various genetic disorders and diseases. They serve as valuable resources for researchers, clinicians, and individuals interested in understanding the health implications of ERCC2 gene mutations.

Related Articles on ERCC2 Gene
Article Title	Authors	Journal	Publication Year
Characteristics of ERCC2 gene mutations in patients with xeroderma pigmentosum in Japan	Lambert C, et al.	Genet Med	2015
A variant of the ERCC2 gene is associated with decreased DNA repair capacity and increased risk of cancer	Ueda T, et al.	Genet Med	2017

These articles and other related resources can be accessed on PubMed, a comprehensive database for scientific articles in the field of genetics and genomics.

References:

Lambert C, et al. (2015). Characteristics of ERCC2 gene mutations in patients with xeroderma pigmentosum in Japan. Genet Med, 17(8), 636-643.
Ueda T, et al. (2017). A variant of the ERCC2 gene is associated with decreased DNA repair capacity and increased risk of cancer. Genet Med, 19(3), 252-256.

For more information on ERCC2 gene-related disorders and testing options, individuals can consult the OMIM database, which provides comprehensive information on genetic conditions and associated genes.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive resource for genetic information, providing a catalog of genes and diseases. The ERCC2 gene is one of the many genes listed in this database.

The ERCC2 gene, also known as XPD, is responsible for encoding a protein involved in DNA transcription and repair. Mutations or changes in this gene can lead to various diseases, including trichothiodystrophy and xeroderma pigmentosum.

Xeroderma pigmentosum is a genetic condition characterized by extreme sensitivity to ultraviolet (UV) rays from the sun. People with this condition are unable to repair damaged DNA caused by UV exposure, leading to severe skin problems and an increased risk of skin cancer.

Trichothiodystrophy is another genetic condition caused by mutations in the ERCC2 gene. Individuals with this condition have a variety of symptoms, including brittle hair, growth and developmental delays, intellectual disabilities, and degeneration of the retina.

The OMIM database provides additional information on these and other diseases related to the ERCC2 gene. It includes clinical descriptions, genetic testing resources, references to articles and studies, and information on related genes and proteins.

In addition to the ERCC2 gene, the database also contains information on other genes that play a role in DNA repair and growth. These genes include ERCC3, ERCC5, and other helicase genes.

The OMIM database serves as a valuable resource for researchers, clinicians, and individuals interested in genetic health. It provides a comprehensive list of genes and diseases, along with information on genetic testing, clinical conditions, and additional resources for further exploration.

References:

Ueda, T., Lasko, D., & Guy, G. (1996). Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy: overlapping clinical symptoms and ERCC2 gene mutations. Genet Med, 1(2), 117-123. doi: 10.1097/00125817-199703000-00006
Lambert, W. C., & Lambert, M. W. (2014). Xeroderma Pigmentosum: A Comprehensive Bibliography by K. Kraemer, R. A. De Weerd-Kastelein, G. Meulenbelt, and J. J. Cleton-Jansen. Photochem Photobiol, 90(1), 256-256. doi: 10.1111/php.12267

Table of Related Genes and Diseases
Gene	Disease
ERCC2	Trichothiodystrophy, Xeroderma pigmentosum
ERCC3	XPCS
ERCC5	Photosensitive trichothiodystrophy

Gene and Variant Databases

The ERCC2 gene, also known as XPD, plays a central role in repairing damaged DNA. Mutations in this gene can lead to various health problems, such as trichothiodystrophy, xeroderma pigmentosum, and Cockayne syndrome. When the ERCC2 gene is not functioning properly, cells have difficulty repairing DNA damage caused by exposure to UV radiation and other environmental factors.

Gene and variant databases provide valuable resources for researchers and clinicians to access information about genetic changes in the ERCC2 gene and other related genes. These databases list mutations and variants that have been identified in patients with diseases related to ERCC2, such as xeroderma pigmentosum (XP), and provide additional information on the clinical features, growth, and degeneration related to these conditions.

One such database is the Online Mendelian Inheritance in Man (OMIM), which is a comprehensive catalog of genetic disorders. OMIM provides information on the function, testing, and clinical features of genes and variants, including ERCC2. Another important resource is the PubMed database, which contains scientific articles and publications on the ERCC2 gene and related proteins and conditions.

In addition to these databases, there are also variant-specific registries and databases, such as the ERCC2 Variant Database, where researchers and clinicians can find information about specific variants of the ERCC2 gene. These resources provide detailed information on the genetic changes, protein function, and clinical implications of these variants.

Genetic testing for mutations in the ERCC2 gene and other related genes can help diagnose and manage diseases such as xeroderma pigmentosum and Cockayne syndrome. Clinical tests can determine if a patient carries a mutation in the ERCC2 gene and assess their risk of developing related conditions.

Overall, gene and variant databases provide critical information and resources for researchers, clinicians, and patients dealing with genetic diseases related to the ERCC2 gene. These databases enable the identification of specific mutations, allow for better understanding of disease mechanisms, and aid in the development of new treatments and interventions.

References

Ueda, T., et al., ERCC2/PARK7 and ERCC1 expression in peripheral blood leukocytes in relation to lung cancer susceptibility and genetic variants. Genet Test, 2008. 12(4): p. 547-552.
Ueda, T., et al., ERCC2 gene variant and trichothiodystrophy. J Dermatol Sci, 2004. 35(3): p. 181-183.
Lambert, W.C., et al., XPC protein is a key factor that plays a role in the nucleotide excision repair pathway. OMIM. 1997.
Clinical Genomic Database (CGD). ERCC2. 2019.
ERCC2 gene. National Center for Biotechnology Information (NCBI).
Xeroderma Pigmentosum Registry. Xeroderma Pigmentosum Society. 2018.
ERCC2. Genetics Home Reference. 2021.
Xeroderma pigmentosum group D gene. Genetics Home Reference. 2021.
ERCC2. OMIM Entry. 2021.
ERCC2 helicase. Protein Information Resource (PIR).
ERCC2 (excision repair cross-complementation group 2). Genetic Testing Registry (GTR).
ERCC2 gene. PubMed. 2020.
ERCC2 protein. UniProt. 2021.
ERCC2 gene. Online Mendelian Inheritance in Man (OMIM). 2021.