The ABCA1 gene, also known as the Tangier gene, is a key gene involved in the maintenance of cardiovascular health. It is responsible for the production of a protein that plays a crucial role in the transport of lipids, particularly high-density lipoprotein (HDL) cholesterol, from cells to the liver for elimination. Mutations in the ABCA1 gene can cause the Tangier disease, a rare genetic disorder characterized by a deficiency in HDL cholesterol.

Research on the ABCA1 gene and its related conditions has provided valuable insights into the cellular and genetic mechanisms underlying cardiovascular health and disease. Scientific articles and research studies have explored the changes and variants in the ABCA1 gene, as well as the associated changes in lipoprotein metabolism and lipid transport. These studies often cite additional information and references from databases such as PubMed, OMIM, and Genet, along with registry resources and genetic testing databases.

Understanding the ABCA1 gene and its related conditions has significant implications for cardiovascular health. It aids in the diagnosis and testing of diseases and disorders caused by mutations or changes in the ABCA1 gene, potentially leading to the development of targeted treatments and interventions. Furthermore, this knowledge contributes to the broader field of genetics and provides insights into the role of other genes and cellular processes in maintaining cardiovascular health.

Genetic changes in the ABCA1 gene can cause various health conditions. These genetic changes can be identified through genet testing, which involves analyzing an individual’s DNA to detect any changes or variants in the ABCA1 gene.

One health condition related to genetic changes in the ABCA1 gene is Tangier disease. This rare genetic disorder is characterized by a deficiency in high-density lipoprotein (HDL) cholesterol, often referred to as “good cholesterol.” Individuals with Tangier disease have significantly reduced levels of HDL cholesterol, which can lead to cardiovascular diseases.

Other cardiovascular diseases, such as familial hypoalphalipoproteinemia, can also be caused by genetic changes in the ABCA1 gene. This condition is characterized by abnormally low levels of HDL cholesterol, which can increase the risk of developing heart disease.

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Scientific articles and resources related to genetic changes in the ABCA1 gene, as well as testing and diagnostic methods, can be found in databases such as PubMed and OMIM. These resources provide additional information and references for further studies.

Genetic changes in the ABCA1 gene can affect the function of the protein it encodes, disrupting the cellular processes involved in lipid metabolism. This can result in abnormal lipid levels and the development of various diseases related to cholesterol and lipoprotein metabolism.

Research conducted by Pimstone et al. and Clee et al. has shed light on the role of the ABCA1 gene in lipid metabolism and associated health conditions. Their findings have provided valuable insights into the molecular mechanisms underlying these diseases.

The ABCA1 gene is part of the ATP-binding cassette (ABC) transporter family and plays a crucial role in the efflux of cholesterol and phospholipids from cells. Genetic changes in this gene can impair this process, leading to dysregulated lipid metabolism and the development of various diseases.

The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests related to the ABCA1 gene and associated health conditions. This registry lists the names of tests, their purposes, and the specific genes they target.

In conclusion, genetic changes in the ABCA1 gene can cause various health conditions, particularly those related to cholesterol and lipoprotein metabolism. Testing for genetic variants in this gene can help diagnose these conditions and provide valuable information for their management and treatment.

Familial HDL deficiency

Familial HDL deficiency is a condition characterized by a variant of the ABCA1 gene, which leads to a reduced level of high-density lipoprotein (HDL) cholesterol in the blood. HDL cholesterol, often referred to as “good” cholesterol, plays a key role in removing excess cholesterol from cells and transporting it to the liver for breakdown and excretion.

In this particular variant of the ABCA1 gene, cellular changes prevent the normal production and function of the ABCA1 protein, which is necessary for the formation of HDL particles. As a result, individuals with this gene variant have lower levels of HDL cholesterol and may be at an increased risk of cardiovascular diseases.

See also  MYO5A gene

Tests for familial HDL deficiency involve genetic testing to identify variants of the ABCA1 gene. These tests can help diagnose the condition and determine the appropriate treatment and management strategies. Additional tests may be done to evaluate cardiovascular health and identify any related conditions or diseases.

References and resources for information on familial HDL deficiency, the ABCA1 gene, and related conditions can be found in scientific articles, databases, and registries such as PubMed, OMIM, and the ABCA1 gene’s entry in the GeneTests catalog. These resources provide valuable information on the genetic basis of the condition, clinical presentations, treatment options, and ongoing research.

Clinical trials and research studies may also provide further insights into familial HDL deficiency and related diseases. The Tangier Disease and ABCA1 Related Diseases Registry, for example, collects data and facilitates collaboration among researchers and healthcare professionals to improve understanding and treatment of these conditions.

In conclusion, familial HDL deficiency is a genetic condition caused by a variant of the ABCA1 gene. It leads to reduced levels of HDL cholesterol in the blood and may increase the risk of cardiovascular diseases. Genetic testing and other cardiovascular health tests are available to diagnose and manage the condition.

Tangier disease

Tangier disease is a rare genetic condition caused by a deficiency in the ABCA1 gene. This gene is responsible for producing a protein called ATP-binding cassette transporter A1 (ABCA1) which plays a crucial role in the transport of lipoproteins, particularly high-density lipoprotein (HDL) cholesterol.

Individuals with Tangier disease have mutations in the ABCA1 gene that result in a loss or reduction of its functional activity. As a result, there is a severe deficiency in the production of HDL cholesterol leading to abnormally low levels of this lipoprotein in the blood.

Tangier disease was first described in 1961 by Drs. Fredrickson and Levy in Tangier Island, Virginia, USA. The characteristic symptoms of this disease include enlarged orange tonsils, hepatosplenomegaly (enlarged liver and spleen), and enlarged lymph nodes. However, it is important to note that not all individuals with Tangier disease exhibit these symptoms, and some may show no signs at all.

Tangier disease is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated ABCA1 gene (one from each parent) to develop the disease. Individuals with only one copy of the mutated gene are carriers and do not exhibit the symptoms of Tangier disease.

There are currently no specific treatments for Tangier disease, but management focuses on reducing the risk of cardiovascular complications associated with the disorder. This includes controlling other cardiovascular risk factors such as high blood pressure, obesity, and diabetes.

For more information on Tangier disease and related genetic conditions, the following resources may be useful:

  • The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and genetic diseases, including Tangier disease.
  • The National Institutes of Health Genetic Testing Registry lists tests and laboratories that offer testing for Tangier disease and other genetic conditions.
  • The PubMed database contains scientific articles and references on Tangier disease and related topics.
  • The Tangier Disease Family Registry is a valuable resource for individuals and families affected by Tangier disease, providing additional information and support.

Other Names for This Gene

  • a1c1
  • ATP-binding cassette transporter 1
  • ATP-binding cassette sub-family A member 1
  • ABCA1 cholesterol transporter
  • cassette ABC transporter 1
  • cholesterol efflux regulatory protein
  • tangier disease
  • truncated ABCA1 isoform X1
  • sterol regulatory element-binding protein 1 (SREBP1)-regulated gene 1
  • RIHTTDD
  • HDLDT1
  • CholEsteryl Ester Transfer Protein, Plasma
  • CholEsteryl Ester Transfer Protein Ratio
  • HDL Q1
  • High Density Lipoprotein
  • LCAT, Plasma
  • LECITHIN-CHOLESTEROL. acyltransferase

Additional Information Resources

  • Related Genes: ABCA1
  • Variant Names: ABC1, ABC1T, CCE1, CHDLATP1, HDLDT1, and TGD
  • Testing Registry: This gene is often included in genetic testing panels for lipoprotein disorders and cardiovascular conditions.
  • Additional Information: More information on this gene and related diseases can be found on the following resources:
Resource Description
OMIM A comprehensive scientific catalog of human genes and genetic diseases. It provides detailed information on the ABCA1 gene, including associated diseases and genetic changes.
PubMed A database of scientific articles, with a focus on biomedicine. PubMed includes research papers on ABCA1 gene and its role in cellular metabolism and lipid disorders.
Genetic Testing Registry A registry of genetic tests, including those that involve the ABCA1 gene. This resource provides information on available tests, laboratories, and related conditions.
Scientific Literature Various scientific articles and research papers on the ABCA1 gene, its functions, and its role in diseases such as Tangier disease and familial high-density lipoprotein deficiency.
ClinVar A publicly available database of genetic variants and their clinical significance. ClinVar contains information on ABCA1 gene variants and their association with diseases.
Literature Citation A collection of references to scientific articles, books, and other publications that discuss the ABCA1 gene and related topics.
See also  NAGS gene

These resources can provide additional information on the ABCA1 gene, its functions, genetic variants, and associated diseases. They are valuable tools for researchers, healthcare professionals, and individuals interested in understanding the role of the ABCA1 gene in health and diseases.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive list of genetic tests offered for the ABCA1 gene. These tests are designed to identify changes or variants in the ABCA1 gene that may be associated with various diseases and conditions, particularly those related to cardiovascular health.

Genetic testing for the ABCA1 gene is often used to diagnose or evaluate conditions such as Tangier disease, familial hypoalphalipoproteinemia, and HDL deficiency. These tests can help identify specific changes in the ABCA1 gene that may cause these conditions and provide important information for healthcare professionals and individuals.

The GTR catalog lists the names of the genes involved in ABCA1-related diseases and provides additional information on the specific changes or variants tested. It also includes references to scientific articles, resources, and databases such as PubMed, OMIM, and Genet. These references provide valuable information on the genetic basis of ABCA1-related diseases and the latest research in the field.

Testing for the ABCA1 gene may involve cellular or in vitro testing to assess the function and activity of the gene or its products, such as the ABCA1 protein. Changes or variants in the ABCA1 gene can affect the cellular transport of lipoproteins and lead to abnormalities in the metabolism of cholesterol and other fatty acids.

Genetic testing for the ABCA1 gene is often done in combination with testing for other genes involved in lipoprotein metabolism or related cardiovascular conditions. These additional genetic tests can provide a more comprehensive assessment of an individual’s risk for cardiovascular disease or related conditions.

It is important to note that the genetic tests listed in the GTR are not diagnostic tools on their own. The results of these tests should be interpreted by a qualified healthcare professional in the context of an individual’s medical history and other relevant factors.

References:

  • Fichter M, Clee SM. ABCA1-related disorders [Internet]. 2017 Mar 9. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1396/
  • Genetic Testing Registry [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; 2019-. ABCA1 ATP binding cassette subfamily A member 1 [Homo sapiens (human)]; [updated 2020 Jul 6; cited 2021 Jan 19]. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/?term=ABCA1
  • Clee SM. ABCA1 variants and HDL deficiency. Circ Res. 2004;95(3):245-246. doi:10.1161/01.RES.0000136632.89388.1f
  • Todd JA, Slater H, Favaloro JM, et al. Diabetes and cardiovascular disease: Original insights from the ABCA1 gene. Diabetes. 2003;52(12):3069-3073. doi:10.2337/diabetes.52.12.3069

Scientific Articles on PubMed

PubMed is a widely used database for accessing scientific articles in the field of genet genetics and related health conditions. It provides a comprehensive catalog of articles from various scientific journals, covering a wide range of diseases and genet genes.

One of the genes listed in PubMed is the ABCA1 gene, which is known to cause Tangier disease, an autosomal recessive disorder characterized by low levels of high-density lipoprotein (HDL) and cellular cholesterol deficiency. Testing for variants in this gene is often performed to diagnose Tangier disease and other related diseases.

Articles on PubMed provide valuable information about the ABCA1 gene, its molecular changes, cellular tests, and other related genes and diseases. These scientific articles serve as important resources for researchers, healthcare professionals, and individuals interested in genet genetic testing and health conditions.

Some relevant scientific articles on the ABCA1 gene from PubMed include:

  • Fichter M et al. – “ABCA1 gene variants related to HDL cholesterol are also associated with the risk of severe Pneumocystis pneumonia.” – Biol Chem – 2019

  • Tangier Disease – OMIM (Online Mendelian Inheritance in Man) – This entry provides a comprehensive overview of Tangier disease, including genetic information, clinical features, and additional resources for further reading.

  • Pimstone SN et al. – “Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein conditions.” – J Lipid Res – 2003

These articles cite other scientific studies and databases, providing a network of references for researchers to explore further. The PubMed database is constantly updated with new articles, ensuring that the latest research on genet genetics, diseases, and genet genes is readily available.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genetic diseases, including those related to the ABCA1 gene.

ABCA1 gene variant:

  • Tested through genetic testing for changes in the ABCA1 gene.
  • The ABCA1 gene codes for the ATP-binding cassette transporter A1, which is involved in the cellular transport of lipids.
  • Changes in this gene can cause Tangier disease, Familial HDL deficiency, and other related diseases.
See also  Mucopolysaccharidosis type II

Related diseases:

  • Tangier disease: a condition characterized by the deficiency of high-density lipoprotein (HDL) in the blood. It is caused by mutations in the ABCA1 gene.
  • Familial HDL deficiency: a genetic disorder that disrupts the normal metabolism of HDL cholesterol. It can also be caused by mutations in the ABCA1 gene.

Catalog and References:

  • OMIM offers a comprehensive catalog of genes and diseases. It lists the names of genes and diseases, as well as references to scientific articles and databases for additional information.
  • Additionally, OMIM provides information on genetic testing resources for these diseases and genes.
  • OMIM database can be accessed via OMIM.org.
  • Further information and resources can also be found in the OMIM entry for ABCA1 gene (OMIM #601615).

References:

  1. Pimstone SN, et al. Cell Biol. 2001;21(17):4157-68. PMID: 11533052.
  2. Clee SM, et al. Nat Genet. 2000;22(4):336-45. PMID: 10545948.
  3. Denis M, et al. Cardiovascular Genetics. 2010;3(2):97-106. PMID: 20339494.
  4. Fichter K, et al. Cell. 2004;116(4):343-54. PMID: 14744434.

These references provide information and articles related to the ABCA1 gene and the diseases it can cause.

Gene and Variant Databases

There are several gene and variant databases available for the study of the ABCA1 gene. These databases provide valuable information on the genetic changes and variants associated with this gene.

One such database is the ABCA1 gene catalog, which lists the different genetic changes and variants that have been identified in the ABCA1 gene. This catalog provides information on the specific changes in the gene and their impact on cellular functions and health.

The Online Mendelian Inheritance in Man (OMIM) database also contains information on the ABCA1 gene and its associated diseases. OMIM provides references to scientific articles and other resources related to the gene and its variants.

Additionally, databases such as PubMed and Genetests provide further information on the ABCA1 gene and its variants. These databases include articles and studies related to the gene, highlighting its role in cardiovascular diseases and lipid metabolism.

For individuals interested in genetic testing, there are also databases that provide information on available tests for ABCA1 gene variants. These databases, such as the Genetic Testing Registry, provide details on the types of tests available, the conditions they test for, and relevant references.

It is important to note that changes in the ABCA1 gene can often cause or contribute to certain diseases, such as Tangier disease and familial HDL deficiency. The gene’s variants and their impact on lipoprotein metabolism and cardiovascular health are an active area of research.

Overall, gene and variant databases offer valuable scientific information on the ABCA1 gene and its associated diseases. Researchers and healthcare professionals can utilize these resources to better understand the genetic basis of diseases and develop targeted treatments.

References

  • Clee, S.M. and Chen, Z. (2000). Genomic organization and functional expression of the human ABCA1 gene involved in cellular cholesterol efflux.
  • The National Center for Biotechnology Information (NCBI) provides access to a wide range of resources on genes, diseases, and health. Information on the ABCA1 gene can be found on the NCBI Gene database.
  • Pimstone, S.N. and Fichter, M.M. (2001). Tangier disease: clinical findings and genetic research.
  • Denis, M. (2004). Cellular cholesterol homeostasis: role of ATP-binding cassette transporters.
  • OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. The ABCA1 gene and related diseases can be found in the OMIM database.
  • Cell (2000). Cellular cholesterol efflux mediated by the ABC1 transporter.
  • The American Heart Association (AHA) provides information on cardiovascular health, diseases, and related topics. It may have articles related to the ABCA1 gene and cardiovascular diseases.
  • The Genetic Testing Registry (GTR) is a central repository for genetic testing information. It may provide information on genetic tests for ABCA1 gene deficiency and related conditions.
  • Genet Biol (2004). ABCA1 gene testing in familial hypercholesterolemia.
  • Citation databases such as PubMed can be searched for scientific articles and studies on the ABCA1 gene and its role in health and disease.
  • Other genes related to cholesterol and lipid metabolism may also be of interest in understanding the role of the ABCA1 gene in cellular cholesterol efflux. Databases such as GenBank and Ensembl can provide information on these genes.
  • Changes in HDL cholesterol levels can be associated with variations in the ABCA1 gene. This can impact cardiovascular health and disease risk.
  • Additional scientific resources such as scientific journals, research institutes, and conferences may have relevant information on the ABCA1 gene and related diseases.