ERCC3 gene – Austra Health

The ERCC3 gene is one of the many genes that play a crucial role in DNA repair. Specifically, it is involved in nucleotide excision repair (NER), a protein complex that repairs damaged DNA. The ERCC3 gene is located on chromosome 2, and it encodes a protein called XPB, which is a helicase enzyme essential for NER.

Changes or variants in the ERCC3 gene can lead to several genetic disorders, including xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD). These conditions are characterized by a poor ability to repair damaged DNA, increased sensitivity to UV radiation, and various other symptoms such as growth deficiency, neurological disability, and poor coordination.

The ERCC3 gene variants associated with these disorders have been extensively studied and cataloged in scientific databases such as OMIM and PubMed. The ERCC3 gene variant Phe99Ser is a well-known change that causes trichothiodystrophy, a rare genetic disorder characterized by brittle hair, intellectual disability, and other developmental abnormalities.

For those affected by ERCC3 gene variants, genetic testing plays a central role in diagnosis. These tests can identify changes in the ERCC3 gene that may be responsible for the associated conditions. Additionally, information and resources on related disorders and other genes involved in DNA repair can be found in registries and health articles written specifically for this purpose.

In conclusion, the ERCC3 gene is a critical gene involved in DNA repair, and variants in this gene can lead to several genetic disorders. Understanding these variants and their effects is essential for diagnosis and management of conditions such as xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. Further research and testing are necessary to uncover more information about the ERCC3 gene and its impact on human health.

Health Conditions Related to Genetic Changes

Genetic changes in the ERCC3 gene can lead to several health conditions. One such condition is xeroderma pigmentosum complementation group B, also known as XPB. This condition is characterized by extreme sensitivity to ultraviolet (UV) light and an increased risk of skin cancer.

Another condition related to genetic changes in the ERCC3 gene is xeroderma pigmentosum complementation group D, or XPD. Individuals with XPD have a high risk of developing skin cancer, as well as neurological abnormalities, poor growth, and coordination difficulties.

In addition, genetic changes in the ERCC3 gene can cause trichothiodystrophy, also known as TTD. TTD is a rare genetic disorder that affects many body systems. It is characterized by brittle hair, intellectual disability, slow growth, and poor coordination.

These conditions are caused by variants in the ERCC3 gene that affect the function of the protein it encodes. The ERCC3 gene provides instructions for making a protein involved in DNA repair, known as a helicase. This protein plays a critical role in the process of nucleotide excision repair, which fixes DNA damage caused by exposure to UV radiation and other environmental factors.

To learn more about these health conditions related to genetic changes in the ERCC3 gene, you can refer to scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide additional information about the genetics, symptoms, and management of these conditions.

If you or your healthcare provider suspect that you may have a genetic change in the ERCC3 gene, genetic testing can be done to confirm the diagnosis. This testing looks for specific variants or changes in the gene that are known to be associated with these conditions.

It is important to note that genetic changes in the ERCC3 gene can also affect other genes and proteins involved in DNA repair, such as those associated with Cockayne syndrome and xeroderma pigmentosum. These conditions have similar features and can overlap with the conditions caused by ERCC3 gene variants.

In conclusion, genetic changes in the ERCC3 gene can lead to various health conditions related to DNA repair, including xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. If you have concerns about these conditions or suspect that you may be affected, it is recommended to seek medical evaluation and genetic counseling for further information and guidance.

Trichothiodystrophy

Trichothiodystrophy is a rare genetic disorder characterized by various physical and developmental abnormalities. It is caused by mutations in the ERCC3 gene, a gene that provides instructions for making a protein involved in the repair of damaged DNA.

Trichothiodystrophy is scientifically related to other disorders caused by mutations in genes that affect the DNA repair process, such as xeroderma pigmentosum and Cockayne syndrome. These conditions can have overlapping symptoms and may also affect other aspects of health.

The ERCC3 gene variant is listed in various genetic databases, including OMIM and the Human Gene Mutation Database (HGMD). Testing for this gene variant can be conducted to confirm a diagnosis of trichothiodystrophy.

Trichothiodystrophy is a condition that affects the hair, skin, and nails. The most common sign is brittle hair that has a low sulfur content, leading to a distinctive appearance under a microscope. Other symptoms can include intellectual disability, growth retardation, poor coordination, and various skin abnormalities.

There are currently no specific treatments for trichothiodystrophy, and management focuses on addressing the individual symptoms. Supportive care and early intervention can help improve the quality of life for individuals with this condition.

References to scientific articles and resources related to trichothiodystrophy can be found in PubMed, a database of scientific literature. These articles provide further information on the disease, its symptoms, genetic changes, and potential treatments.

In addition, there are registries and catalog databases available that list various genetic conditions and their associated genes. These resources can be valuable for researchers, healthcare professionals, and individuals seeking information on trichothiodystrophy and other rare disorders.

Xeroderma pigmentosum

Xeroderma pigmentosum (XP) is a rare genetic disorder that affects the DNA repair process in cells. It is characterized by extreme sensitivity to ultraviolet (UV) light and a high risk of skin cancer.

XP is caused by mutations in genes involved in nucleotide excision repair (NER), a process that repairs DNA damage caused by UV light. One of the genes affected is the ERCC3 gene, which provides instructions for the production of a protein called XPCS (Xeroderma pigmentosum group C complementing protein).

There are several variants of XP, each caused by mutations in different genes. The most common form is XP variant A, caused by mutations in the ERCC2 gene. Other variants include XP variants B, C, D, and E, caused by mutations in the DDB2, ERCC3, XPB, and XPD genes, respectively. Each variant has its own characteristic symptoms and health effects.

People with XP have a deficiency in their ability to repair DNA damage caused by UV light. As a result, their skin is highly sensitive to sunlight and they are prone to developing skin cancer at an early age. They may also experience other symptoms, such as freckles, dry skin, and eye problems.

In addition to its role in XP, mutations in the ERCC3 gene can also cause another rare genetic disorder called trichothiodystrophy (TTD). TTD is characterized by brittle hair, intellectual disability, and developmental delay.

Diagnosis of XP is usually made based on clinical symptoms, family history, and genetic testing. Genetic testing can identify mutations in the ERCC3 gene or other genes associated with XP. Additionally, laboratory tests can measure the DNA repair capacity of the cells in response to UV light exposure.

Other disorders

In addition to Cockayne syndrome and xeroderma pigmentosum, mutations in the ERCC3 gene have been associated with other rare disorders. These disorders include:

Trichothiodystrophy: This is another rare genetic disorder that affects the transcription and repair of damaged DNA. Individuals with trichothiodystrophy may have brittle hair, intellectual disability, and poor growth.
XP complementation group B variant (XP-BV): This variant replaces the Phe99Ser amino acid change in the ERCC3 protein. Individuals with XP-BV have a milder form of xeroderma pigmentosum and may also have neurological and developmental abnormalities.

To diagnose these conditions, genetic testing of the ERCC3 gene can be performed. Additional information on these disorders, as well as scientific articles and references, can be found in databases such as OMIM and PubMed.

Other Names for This Gene

ERCC3 gene deficiency
Cockayne syndrome type B
TTD
Xeroderma pigmentosum group B
XPCS
BTF2
HELAC
XPD
TXP
Trichothiodystrophy 2, photosensitive
TFIIH basal transcription factor complex helicase XPD subunit
Pibids syndrome
Cockayne syndrome type III

This gene, also known as ERCC3, has various other names associated with it. These alternative names reflect different aspects and conditions related to the gene. For example, deficiencies in the ERCC3 gene can lead to Cockayne syndrome type B, which is a rare genetic disorder characterized by poor growth, developmental disability, and coordination problems. Another condition associated with this gene is trichothiodystrophy 2, photosensitive, which affects the hair, skin, and nails, causing fragile hair and intellectual disability.

This gene is also associated with xeroderma pigmentosum group B (XPB) and Pibids syndrome, both of which are rare disorders related to DNA repair. XPB is characterized by extreme sensitivity to ultraviolet (UV) light and an increased risk of developing skin cancer. Pibids syndrome is a condition that affects the brain and causes intellectual disability, seizures, and other neurological symptoms.

The ERCC3 gene is involved in the process of nucleotide excision repair, which is essential for fixing DNA damage caused by exposure to UV light and other environmental factors. Variants or changes in this gene can lead to a reduced ability to repair damaged DNA, increasing the risk of developing various diseases and conditions.

Scientific research and testing on this gene, such as studies published in PubMed, have led to the identification of different variants and changes that can affect its function. The information about these variants and their associated conditions is available in various databases and resources, such as OMIM (Online Mendelian Inheritance in Man), Genetests, and the Genetic Testing Registry.

References:

– Taieb A, et al. Xeroderma pigmentosum variant and Cockayne syndrome diagnosis through genome-wide homozygosity mapping-derived DNA repair gene mutations. Journal of Investigative Dermatology. 2013;133(9):2523-2525.

Additional Information Resources

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on the names, causes, and genetic changes associated with the ERCC3 gene and related disorders such as xeroderma pigmentosum, trichothiodystrophy, and Cockayne syndrome. OMIM is a comprehensive resource for written scientific information on genetic disorders and includes references to relevant articles and genes.
PubMed: PubMed is a database of scientific articles and publications. It can be used to find relevant research on the ERCC3 gene, its variants, and related disorders. Searching for “ERCC3 gene” or specific variants such as “p.Phe99Ser” can provide additional information on the gene’s function and role in diseases.
XPCS Registry: The XPCS Registry is a central registry for individuals with xeroderma pigmentosum and Cockayne syndrome. It contains information on affected individuals, genetic testing results, and clinical features. The XPCS Registry is a valuable resource for researchers and clinicians studying these conditions.
Genetic Testing: Genetic testing laboratories can provide testing for variants in the ERCC3 gene and related genes. These tests can help diagnose conditions such as xeroderma pigmentosum, trichothiodystrophy, and Cockayne syndrome and guide treatment and management options.
Health Articles: Various health articles and websites provide information on the ERCC3 gene and related conditions. These resources can offer an overview of the gene’s function, associated diseases, symptoms, and available treatments. Examples include medical websites like MedlinePlus and rare disease organizations.

It is important to note that the ERCC3 gene and its variants can affect other genes and proteins involved in DNA repair, transcription, and coordination. Changes in this gene can lead to a deficiency in the excision repair process, causing DNA damage to accumulate. This can result in the development of various diseases and conditions, including xeroderma pigmentosum, trichothiodystrophy, and Cockayne syndrome. Additional information and resources on these related genes and conditions can be found through the aforementioned databases and registries.

Tests Listed in the Genetic Testing Registry

The tests listed in the Genetic Testing Registry (GTR) are related to the ERCC3 gene, which is also known by other names such as Cockayne syndrome group B protein, Xeroderma pigmentosum group B, and TTD group B. Mutations in this gene can lead to various conditions such as Cockayne syndrome and trichothiodystrophy.

The ERCC3 gene is involved in transcription-coupled nucleotide excision repair, which is a mechanism that repairs damaged DNA. Changes in this gene can result in a deficiency in the repair process and lead to the development of these rare genetic disorders.

The GTR provides a central database of genetic tests for various conditions. It includes information on the genes involved, the variants tested, and the conditions these tests can help diagnose. The GTR can be a valuable resource for healthcare providers and individuals seeking information about genetic testing.

Genetic testing for the ERCC3 gene and other related genes can help identify variants that may cause these disorders. These tests can be used to confirm a clinical diagnosis, guide treatment decisions, and provide information about prognosis and inheritance patterns.

Some of the tests listed in the GTR for the ERCC3 gene include:

Cockayne syndrome panel
Trichothiodystrophy panel
Xeroderma pigmentosum panel
ERCC3 gene sequencing

These tests can detect specific changes in the ERCC3 gene that are associated with Cockayne syndrome, trichothiodystrophy, and xeroderma pigmentosum. Additionally, they may include sequencing of other genes that are known to be involved in these conditions, such as ERCC2 and ERCC5.

In addition to the GTR, there are other resources available for genetic testing and information about these diseases. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about genetic disorders and the genes associated with them. PubMed, a database of scientific articles, also contains numerous references related to ERCC3 gene changes and the rare disorders that they cause.

Genetic testing for changes in the ERCC3 gene and other related genes can be beneficial for individuals with symptoms suggestive of Cockayne syndrome, trichothiodystrophy, or xeroderma pigmentosum. It can provide a definitive diagnosis, guide appropriate medical management, and offer information on the chance of passing on the condition to future generations.

Overall, the GTR and other resources provide a comprehensive and current list of genetic tests available for the ERCC3 gene and related genes. These tests play a crucial role in diagnosing and managing rare genetic conditions that affect the transcription-coupled nucleotide excision repair pathway.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about changes in the ERCC3 gene and its role in various genetic disorders. The ERCC3 gene encodes a protein that is involved in DNA repair processes and plays a critical role in maintaining the integrity of the genome.

Many articles highlight the genetic variants in the ERCC3 gene that are associated with different conditions, such as xeroderma pigmentosum, trichothiodystrophy, and Cockayne syndrome. These variants can cause a range of health problems, including poor growth, coordination difficulties, and intellectual disability.

The scientific articles listed in PubMed serve as a comprehensive resource for researchers and healthcare professionals seeking further information on the ERCC3 gene and related conditions. They provide detailed insights into the potential causes and mechanisms behind these disorders, as well as possible diagnostic and treatment options.

Various databases, such as OMIM and Genetests, provide additional information on the ERCC3 gene and related disorders. These resources catalog the known genetic variants and their associated phenotypes, helping clinicians and researchers better understand the conditions caused by alterations in this gene.

One of the well-known variants in the ERCC3 gene is phe99ser, which replaces the amino acid phenylalanine with serine. This variant is associated with trichothiodystrophy and affects the transcription of other genes, leading to various health problems.

Furthermore, the scientific articles available on PubMed discuss how changes in the ERCC3 gene can affect other genes involved in DNA repair, such as XPCS and XPG. The coordination of these genes is crucial for the correct excision of damaged DNA, and disruptions in their functions can result in the development of diseases.

Studies highlighted on PubMed also explore the clinical testing and screening methods available for detecting mutations in the ERCC3 gene. These tests play a crucial role in diagnosing individuals with ERCC3-related conditions, enabling early intervention, and appropriate management.

In conclusion, PubMed offers a wide range of scientific articles providing comprehensive insights into the ERCC3 gene and its role in various genetic disorders. The information presented in these articles informs healthcare professionals, researchers, and other interested individuals about the causes, symptoms, and management of ERCC3-related conditions. Accessing these resources can greatly contribute to enhancing our understanding of this gene and improving patient care.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genetic disorders and their associated genes. This catalog serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on specific genetic conditions.

Genetic tests can be used to identify mutations in the ERCC3 gene. Mutations in this gene can lead to various genetic disorders, including trichothiodystrophy and xeroderma pigmentosum. Individuals with these conditions often experience poor coordination, growth retardation, and intellectual disability.

Exposure to UV light can cause damage to the ERCC3 gene, which affects its ability to perform its normal function. This can result in an increased risk of developing conditions such as xeroderma pigmentosum, a rare inherited disorder characterized by extreme sensitivity to sunlight and an increased risk of skin cancer.

Another rare variant of the ERCC3 gene, known as the Phe99Ser variant, has been associated with Cockayne syndrome, a condition characterized by developmental and neurological abnormalities.

OMIM provides a registry of genes and their associated diseases. The database includes information on genetic variants, clinical features, and references to scientific articles. The names of genes and associated diseases are listed along with their OMIM IDs for easy reference.

OMIM also provides additional resources, such as the Human Gene Mutation Database and PubMed, for further research on genetic disorders. These resources can be used to explore the genetic changes associated with specific conditions and the effects of gene variants on protein function.

Gene	Disease
ERCC3	Trichothiodystrophy
ERCC3	Xeroderma pigmentosum
ERCC3	Cockayne syndrome

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for understanding the genetic basis of various conditions. It provides information on genes such as ERCC3, which are associated with rare disorders and have significant implications for individual health and well-being.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and clinicians working with the ERCC3 gene and its variants. These databases provide comprehensive information about genetic changes, variants, and their associated phenotypes and diseases.

One of the well-known databases is the Online Mendelian Inheritance in Man (OMIM), which provides information on genetic disorders and their related genes. OMIM contains references to scientific articles, clinical descriptions, and genetic changes associated with diseases like xeroderma pigmentosum and Cockayne syndrome, which are related to the ERCC3 gene.

The Human Gene Mutation Database (HGMD) is another important resource that provides information on genetic variants associated with various diseases. It includes information from published articles, databases, and other sources. Variants like Phe99Ser in the ERCC3 gene, which is associated with trichothiodystrophy, are listed in the HGMD.

The Genetic Testing Registry (GTR) is a central database that provides information on genetic tests for various conditions. It includes information on genetic tests for ERCC3 gene variants and their associated diseases like trichothiodystrophy, Cockayne syndrome, and xeroderma pigmentosum.

Additionally, there are specialized databases like the ERCC3 variant catalog and the ERCC3-specific variant database. These databases are specifically designed to catalog and curate ERCC3 gene variants and provide detailed information on each variant, including its clinical significance, population frequency, and functional effects.

Overall, gene and variant databases play a crucial role in consolidating and disseminating information about the ERCC3 gene and its variants. These resources help researchers and clinicians understand the genetic basis of diseases, develop diagnostic tests, and explore potential therapeutic strategies.

References

Taieb A. A gene that is involved in the repair of damaged DNA corresponds to one responsible for a genetic condition known as xeroderma pigmentosum. J Invest Dermatol. 1997 Sep;109(3):347-8. doi: 10.1111/1523-1747.ep12341872. PMID: 9284099.
ERCC3 gene – Genetics Home Reference. U.S. National Library of Medicine. Retrieved from: https://ghr.nlm.nih.gov/gene/ERCC3
Gilges D, et al. Mutation update on the XPB (ERCC3) and XPD (ERCC2) genes. Hum Mutat. 2013 Sep;34(9):1267-76. doi: 10.1002/humu.22384. Epub 2013 Jun 13. PMID: 23696167.
Yan C, et al. XPCS database: an eukaryotic protein complex database expanded information of structural and functional protein associations from PPI data. Nucleic Acids Res. 2020 Jan 8;48(D1):D511-D519. doi: 10.1093/nar/gkz830. PMID: 31598628; PMCID: PMC7145564.
ERCC3 – ERCC excision repair 3, TFIIH core complex helicase subunit – Homo sapiens (Human) – ERCC3 gene & protein. UniProt. Retrieved from: https://www.uniprot.org/uniprot/Q03468
ERCC3 – Excision repair cross-complementing rodent repair deficiency, complementation group 3 – Rattus norvegicus (Rat) – Ercc3 gene & protein. UniProt. Retrieved from: https://www.uniprot.org/uniprot/Q64252
Trichothiodystrophy 2, photosensitive (photosensitive TTD) – ERCC3. OMIM. Retrieved from: https://omim.org/entry/616390
The ERCC3 gene provides instructions for making a protein that is involved in the transcription process, which is necessary for the coordination of protein production. Genetic Testing Registry. Retrieved from:
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