LDLR gene – Austra Health

The LDLR gene, also known as low-density lipoprotein receptor gene, is a crucial genetic component in the regulation of cholesterol levels in the body. It plays a major role in removing low-density lipoproteins (LDLs), commonly known as “bad” cholesterol, from the bloodstream. Mutations in the LDLR gene can lead to familial hypercholesterolemia, a genetic condition characterized by high levels of LDL cholesterol in the blood.

Testing for LDLR gene variants is conducted to diagnose familial hypercholesterolemia and determine the appropriate treatment plan. Genetic testing provides valuable information about the specific changes in the LDLR gene, offering insights into the affected individual’s health risks and the chances of passing the condition to future generations.

There are several resources available for further information on the LDLR gene and related genetic conditions. The scientific literature on the LDLR gene can be found in databases such as PubMed and OMIM, which provide a comprehensive catalog of articles, references, and additional resources. The LDLR gene is also listed in genetic registries and online databases that collate information on genes, diseases, and associated conditions.

The LDLR gene functions by encoding a receptor that helps remove LDL cholesterol from the bloodstream by binding to LDL particles. Mutations in the LDLR gene can disrupt this function, leading to high levels of LDL cholesterol and an increased risk of cardiovascular diseases. Understanding the genetic basis of familial hypercholesterolemia, as well as other conditions related to the LDLR gene, can aid in the development of targeted therapies and interventions.

Health Conditions Related to Genetic Changes

Genetic changes in the LDLR gene can lead to various health conditions. The LDLR gene is responsible for producing LDL receptors in the liver, which function to remove LDLs (low-density lipoproteins) from the bloodstream. When there are changes or mutations in this gene, it can affect the function of the LDL receptors and lead to health problems.

One of the main health conditions related to genetic changes in the LDLR gene is familial hypercholesterolemia. This is a genetic disorder characterized by high levels of LDL cholesterol in the blood. Familial hypercholesterolemia can increase the risk of cardiovascular diseases, such as heart attacks and strokes.

To diagnose genetic changes in the LDLR gene, genetic testing can be performed. This involves analyzing the DNA to identify any mutations or variants in the gene. Genetic testing can provide important information about the specific genetic changes and guide treatment plans.

For additional information on health conditions related to genetic changes in the LDLR gene, scientific articles and other resources can be consulted. The Online Mendelian Inheritance in Man (OMIM) catalog is a valuable database that lists genes and genetic conditions. PubMed is also a useful resource for accessing scientific articles and research related to this topic.

Below is a list of resources that can provide more information on health conditions related to genetic changes in the LDLR gene:

OMIM catalog: https://www.omim.org/
PubMed: https://pubmed.ncbi.nlm.nih.gov/

It is important to note that this list is not exhaustive, and there may be other databases and sources of information available.

Familial hypercholesterolemia

Familial hypercholesterolemia is a genetic condition listed in the OMIM catalog, known as the LDLR gene. It is characterized by high levels of low-density lipoprotein (LDL) cholesterol in the bloodstream, leading to an increased risk of cardiovascular diseases.

This condition is caused by mutations in the LDLR gene, which codes for the LDL receptors. These receptors are responsible for removing LDL particles from the bloodstream and delivering them to the liver for processing.

Genetic testing can be performed to identify mutations in the LDLR gene. The LDLR gene variant database, maintained by the LDL receptor function consortium, contains information on identified variants and their associated clinical conditions.

Patients with familial hypercholesterolemia may benefit from additional tests and evaluations to assess their cardiovascular health. Treatment options include lifestyle changes, medication, and in severe cases, LDL apheresis.

There are resources available to provide more information and support for individuals with familial hypercholesterolemia and their families. The Familial Hypercholesterolemia Foundation, for example, provides resources and information on genetic testing, treatment options, and patient support.

References to scientific articles and publications related to familial hypercholesterolemia can be found in databases such as PubMed. These articles provide further insights into the genetic changes, receptor function, and associated conditions of this condition.

References:

OMIM: [link]
LDL receptor function consortium: [link]
Familial Hypercholesterolemia Foundation: [link]
PubMed: [link]

Other Names for This Gene

The LDLR gene is also known by several other names:

Liver genes function diseases form – This gene plays a crucial role in the function of the liver, and mutations in the LDLR gene can lead to various diseases.
OMIM citation genetic conditions – The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic conditions associated with the LDLR gene.
Hypercholesterolemia-removed resources – Mutations in the LDLR gene are a common cause of familial hypercholesterolemia, a condition characterized by high levels of LDL cholesterol in the bloodstream. Resources related to this condition have been removed.
Listed registry names to more gene – The LDLR gene is listed under various registry names to indicate its association with certain genetic conditions.
Receptors copy related additional variant – The LDLR gene codes for LDL receptors, and certain variants of this gene may be associated with additional related conditions.
The PubMed receptor scientific this – Numerous scientific articles discussing the LDLR gene and its receptors can be found on the PubMed database.
For testing changes genetic number health – Genetic testing can be performed to identify changes in the LDLR gene, which can provide valuable information about an individual’s health.
LDLR tests catalog articles from ldls – LDLR tests are included in catalogs and articles that focus on various aspects of LDL metabolism and related disorders.
Databases bloodstream and other references information – Databases contain information on the LDLR gene, its function, and its association with various diseases.

These are just some of the many other names associated with the LDLR gene, highlighting its significance in human health and disease.

Additional Information Resources

Here is some additional information and resources related to the LDLR gene:

Receptors: LDLR gene encodes the Low-Density Lipoprotein Receptors which are responsible for removing LDLs (low-density lipoproteins) from the bloodstream.
Variant: The LDLR gene has various genetic changes or variants that can affect its function.
Scientific Databases: There are several scientific databases available that provide information on the LDLR gene, such as OMIM (Online Mendelian Inheritance in Man) which lists genetic information for familial hypercholesterolemia and other related diseases.
Genetic Testing: Genetic testing can be done to identify changes in the LDLR gene that may be associated with certain health conditions.
Registry: The National Familial Hypercholesterolemia Registry is a valuable resource for individuals and families affected by familial hypercholesterolemia. It provides information, support, and resources.
Citation and References: Additional articles and references related to the LDLR gene and its function can be found on PubMed, a database of biomedical literature.
Other Genes: There are other genes related to LDL metabolism and function, and their information can be found in scientific literature and databases.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive database that provides information on genetic tests for a variety of familial and scientific conditions. It acts as a catalog for genetic tests and their associated conditions, as well as the genes involved in these tests.

In the case of the LDLR gene, the GTR lists several tests related to familial hypercholesterolemia, a genetic disorder that affects the function of LDL receptors in the liver. These tests provide information on the presence of specific genetic variants that can impact the function of these receptors and lead to high levels of LDLs (low-density lipoproteins) in the bloodstream.

The tests listed in the GTR provide additional information on the specific genetic variants associated with familial hypercholesterolemia and related conditions. They offer resources such as OMIM (Online Mendelian Inheritance in Man) citations, references, and articles from PubMed, as well as other genetic databases. These resources allow healthcare professionals to access up-to-date information and stay informed about any changes or new findings in the field of LDLR genetic testing.

By utilizing the tests listed in the GTR, healthcare providers can obtain crucial genetic information that aids in diagnosing and managing diseases related to the LDLR gene. These tests play a vital role in assessing an individual’s risk for familial hypercholesterolemia and determining appropriate treatment and preventive measures.

Overall, the GTR serves as a valuable resource for accessing and referencing genetic tests related to the LDLR gene and its impact on health. It provides comprehensive information, including the names of the tests, associated conditions, genetic variants, and relevant scientific literature. Healthcare professionals can rely on the GTR to find the most relevant and reliable genetic testing options for their patients.

Table: Examples of Tests Listed in the Genetic Testing Registry

Test Name	Associated Conditions	Genetic Variants	References
LDLR Gene Sequencing	Familial Hypercholesterolemia	Various LDLR gene variants	OMIM, PubMed
LDLR Gene Deletion/Duplication Analysis	Familial Hypercholesterolemia	Deletion or duplication of the LDLR gene	OMIM, PubMed
LDLR Protein Function Assay	Familial Hypercholesterolemia	Assessment of LDLR protein function	OMIM, PubMed

Note: This is just a sample of the tests available in the Genetic Testing Registry for the LDLR gene. The GTR provides a comprehensive list of tests, and healthcare professionals should consult the registry for the most up-to-date and relevant information.

Scientific Articles on PubMed

Scientific articles on the LDLR gene provide valuable information about diseases related to this gene and its variants. These articles are a valuable resource for researchers and healthcare professionals seeking to understand the function and genetic changes associated with LDLR.

The LDLR gene, also known as the low-density lipoprotein receptor gene, is responsible for producing proteins that help remove LDL or “bad” cholesterol from the bloodstream. Mutations in this gene can lead to conditions such as familial hypercholesterolemia, a form of high cholesterol that increases the risk of cardiovascular diseases.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genes and diseases.

OMIM, or Online Mendelian Inheritance in Man, is a database that catalogs genetic information related to human diseases. It includes information on changes or mutations in genes that are associated with specific diseases, as well as their related functions and conditions.

The LDLR gene is one example of a gene listed in OMIM. The LDLR gene codes for a receptor that plays a crucial role in removing low-density lipoproteins (LDLs) from the bloodstream. Mutations in this gene can lead to familial hypercholesterolemia and other related conditions.

In addition to genes and diseases, OMIM also provides access to scientific articles and other resources that contain further information on specific genes and diseases. The database includes references and citations to published articles from sources, such as PubMed, that have studied the genetic variants and their impact.

Health professionals and researchers can use the Catalog of Genes and Diseases to find information on specific genes, genetic variants, and associated diseases. The information provided can aid in genetic testing and diagnosis, as well as in understanding the underlying causes of various genetic conditions.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone interested in genetic research or studying genetic diseases and their associated genes.

Gene and Variant Databases

Genes are segments of DNA that contain the instructions for building proteins, which play a crucial role in the functioning of cells and organisms. The LDLR gene, for example, provides instructions for making a protein called the low-density lipoprotein receptor. This receptor helps regulate the amount of cholesterol in the bloodstream by removing LDL particles (often referred to as “bad” cholesterol) from the blood.

Genetic changes in the LDLR gene can result in the production of a variant form of the LDL receptor that does not function properly. This can lead to a condition known as familial hypercholesterolemia, which is characterized by high levels of cholesterol in the blood.

There are several gene and variant databases available that provide information on LDLR gene mutations and their associated health conditions. Some of these databases include:

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information on the genetic changes associated with familial hypercholesterolemia and other related conditions.
National Center for Biotechnology Information (NCBI) Gene: The NCBI Gene database provides detailed information on the LDLR gene, including its genomic location, related publications, and links to other relevant resources.
PubMed: PubMed is a database of scientific articles, many of which contain information on LDLR gene mutations, their functional consequences, and associated health conditions.
GeneTests: GeneTests is a registry of genetic testing laboratories that offer tests for LDLR gene mutations and other genetic changes associated with familial hypercholesterolemia.

These databases can help researchers and healthcare professionals stay up-to-date with the latest scientific findings on LDLR gene mutations and their clinical implications. They provide a wealth of information on the genetic basis of familial hypercholesterolemia and suggest possible treatment strategies.

In addition to these databases, there are also other resources available, such as genetic counseling services, that can provide further guidance and support to individuals and families affected by LDLR gene mutations and related conditions.

References

LDLR gene-related articles in PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=LDLR+gene
Additional resources in the field of LDLR gene: https://www.ncbi.nlm.nih.gov/gene/3949
OMIM entry for LDLR gene: https://www.omim.org/entry/606945
LDLR gene testing information: https://ghr.nlm.nih.gov/gene/LDLR
LDLR gene function and other related information: https://www.ncbi.nlm.nih.gov/gene/3949
Scientific articles on LDLR gene and its receptors: https://pubmed.ncbi.nlm.nih.gov/?term=LDLR

These references provide further information on the LDLR gene, its function, and related conditions such as familial hypercholesterolemia. They can be used to find more scientific articles, genetic testing information, and resources for healthcare professionals. The OMIM entry for the LDLR gene provides a comprehensive catalog of genetic conditions associated with changes in the LDLR gene.

For more information on LDLR gene testing and related conditions, the Genetic Testing Registry (GTR) can be referenced: https://www.ncbi.nlm.nih.gov/gtr/genes/3949/#testsPanel_tests