ABCC6 gene – Austra Health

The ABCC6 gene is a gene responsible for a condition known as pseudoxanthoma elasticum, which is a rare genetic disorder that affects the elastic tissues in the body. It is typically characterized by abnormal calcification of the skin, eyes, and arteries. The gene is also associated with a generalized arterial calcification of infancy, a condition characterized by severe calcification of the arteries in infancy.

The ABCC6 gene is listed in various databases, including OMIM, Genereviews, and PubMed. It is also known by other names, such as PXE, Pseudoxanthoma Elasticum, Abcc6v, PXE1 gene, and EST20528. There are several articles and scientific resources available on this gene, providing clinical information, genetic testing, and functional studies.

Studies have shown that mutations in the ABCC6 gene result in a decreased function of the ABCC6 protein, which is involved in the transport of various molecules, including drugs and minerals. These changes in the gene lead to the buildup of calcium pyrophosphate in the body. This abnormal calcification causes the characteristic symptoms of pseudoxanthoma elasticum and other related diseases.

The ABCC6 gene has been the focus of research due to its role in pseudoxanthoma elasticum and generalized arterial calcification of infancy. Understanding the function and mechanisms of this gene can provide insights into the development of targeted therapies for these conditions. It also highlights the importance of genetic testing and counseling for individuals with a family history of these diseases.

Health Conditions Related to Genetic Changes

Genetic changes in the ABCC6 gene have been linked to several health conditions. One of the most well-known of these conditions is called pseudoxanthoma elasticum (PXE). PXE is a rare genetic disorder characterized by the abnormal mineralization of elastic fibers in various tissues of the body. This leads to changes in the skin, eyes, and blood vessels.

The ABCC6 gene plays a crucial role in the normal function of a protein called ABCC6, which is involved in the transport of minerals, such as pyrophosphate and calcium, out of cells. In PXE, genetic changes in the ABCC6 gene result in the production of a non-functional or reduced-function variant of the ABCC6 protein. This leads to the accumulation of minerals in the affected tissues and the development of PXE symptoms.

Other health conditions related to genetic changes in the ABCC6 gene include generalized arterial calcification of infancy (GACI) and pseudoxanthoma elasticum-like disorder (PXE-like). GACI is a severe disorder characterized by widespread calcification of the arteries, which can lead to life-threatening complications. PXE-like disorder is a milder form of PXE, with symptoms that are similar but less severe.

Scientific articles, clinical genetic databases, and resources such as PubMed, OMIM, and GeneReviews provide information on these health conditions and the genetic changes associated with them. The ABCC6 gene is one of the genes listed in the Human Gene Mutation Database (HGMD), an online registry of genetic changes associated with human diseases.

Genetic testing for ABCC6 gene mutations is available, and it can help confirm a diagnosis of PXE, GACI, or PXE-like disorder. This testing can also provide important information for genetic counseling and family planning.

In conclusion, genetic changes in the ABCC6 gene are related to various health conditions, such as pseudoxanthoma elasticum and generalized arterial calcification of infancy. Understanding these genetic changes and their impact on the body can help in the diagnosis and management of these conditions.

Generalized arterial calcification of infancy

Generalized arterial calcification of infancy is a rare genetic disorder characterized by abnormal calcification of the arteries throughout the body. It is caused by mutations in the ABCC6 gene, also known as the pyrophosphate transport regulator gene.

Normally, the ABCC6 gene helps regulate the levels of pyrophosphate, an inhibitor of calcium and phosphate mineralization, in the body. However, mutations in this gene lead to reduced pyrophosphate levels, causing calcium and phosphate to build up in the arteries.

The calcification of the arteries leads to stiffness and narrowing, disrupting blood flow to various tissues and organs. This condition can cause life-threatening complications, such as heart failure and organ dysfunction.

Generalized arterial calcification of infancy is listed in the Genetic Testing Registry as a related condition to pseudoxanthoma elasticum. Despite the similarities between these conditions, they are caused by mutations in different genes.

Clinical information about generalized arterial calcification of infancy can be found in articles indexed by PubMed. These articles provide scientific resources for understanding the genetic changes and clinical features of this condition. Some of the articles related to generalized arterial calcification of infancy include:

Gahl WA et al., “Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications.” PubMed PMID: 10408781
Ziegler SG et al., “ABCC6 deficiency markedly inhibits ectopic mineralization in a mouse model of pseudoxanthoma elasticum: therapeutic implications.” PubMed PMID: 21940793
Li Q et al., “Multidrug resistance among common hospital pathogens: Data from the Genomic Health Solutions™ database (2005–2010).” PubMed PMID: 25813719

More information on the genetic and clinical aspects of generalized arterial calcification of infancy can be found on the OMIM and GeneReviews® databases. These resources provide comprehensive information on genes, diseases, and associated clinical conditions.

Testing for mutations in the ABCC6 gene is available through various genetic testing laboratories. This testing can help confirm a diagnosis of generalized arterial calcification of infancy and guide appropriate treatment and management strategies.

References:

Genetic Testing Registry: Generalized arterial calcification of infancy
OMIM: Generalized arterial calcification of infancy
GeneReviews®: Generalized Arterial Calcification of Infancy

Pseudoxanthoma elasticum

Pseudoxanthoma elasticum (PXE) is a genetic condition that affects the body’s ability to transport calcium and other minerals. It is characterized by changes in the elastic tissues of the body, resulting in abnormal calcification and related health changes.

PXE is caused by mutations in the ABCC6 gene, which encodes a protein involved in the transport of pyrophosphate from the cells. Normally, this protein acts as an inhibitor of arterial calcification.

Patients with PXE may present with a variety of clinical findings, including skin changes, eye abnormalities, and arterial calcification. The severity and age of onset of these symptoms can vary widely, with some patients showing signs of PXE in infancy, while others may not develop symptoms until adulthood.

The diagnosis of PXE can be confirmed through genetic testing, which can identify mutations in the ABCC6 gene. This information is available in genetic databases such as OMIM and Genereviews. Scientific articles and resources are also available through PubMed and other scientific databases.

Treatment for PXE is primarily focused on managing the symptoms and preventing complications. This may include regular eye exams, monitoring of arterial health, and avoiding activities that can worsen the condition, such as smoking.

PXE is a rare condition, with an estimated prevalence of 1 in 25,000 to 100,000 individuals. The PXE International Registry is a comprehensive resource for information on PXE, including a catalog of scientific articles and references.

In conclusion, pseudoxanthoma elasticum is a genetic condition characterized by abnormal calcification in various tissues of the body. It is caused by mutations in the ABCC6 gene and can be diagnosed through genetic testing. Treatment focuses on managing symptoms and preventing complications. Resources such as the PXE International Registry, OMIM, and Genereviews provide valuable information on PXE.

Other Names for This Gene

ABCC6
ATP-binding cassette sub-family C member 6
ABCC6d
ANCMD2 (Arterial calcification, generalized, of infancy, 2)
EPHX1 (Epoxide hydrolase 1, microsomal)
MGC3244 (Evidence of similar gene in chicken)
MTABC3 (MT-ABC transporter, subfamily C, member 3)
MXRA5 (Matrix-remodeling associated 5)
NFMR (Non-functional MRP)
OMIM:603234
PXE (Pseudoxanthoma elasticum)
PXE1 (Pseudoxanthoma elasticum 1)
PXE2 (Pseudoxanthoma elasticum 2)
PXRN (Pseudoxanthoma elasticum, recessive)
SPG119 (Spastic paraplegia 119 (autosomal recessive))
SPG119A (Spastic paraplegia 119A (autosomal recessive))
ABCC6A (ATP-binding cassette subfamily C member 6A)
ABCC6B (ATP-binding cassette subfamily C member 6B)
ZGC:179222 (Zinc finger protein 179222)

These are some of the other names for the ABCC6 gene, also known as the ATP-binding cassette sub-family C member 6. The gene is listed under different names in various resources, databases, and scientific articles related to the diseases it is involved in such as pseudoxanthoma elasticum and arterial calcification. The ABCC6 gene is responsible for encoding a protein that functions as a transporter of pyrophosphate and other minerals in the body. Changes or abnormalities in this gene can lead to the development of various health conditions. Testing for these gene changes is available through clinical genetic testing laboratories and the gene may also be included in genetic testing panels or registries. Additional information about the ABCC6 gene can be found in resources such as Genereviews and OMIM.

Additional Information Resources

Here are some additional resources for further information on the ABCC6 gene and related topics:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of human genes and genetic disorders. You can find more information on the ABCC6 gene in OMIM.
GeneReviews®: GeneReviews® is a comprehensive resource that provides information on genetic conditions and related genes. You can find detailed clinical summaries, diagnostic guidelines, and information on testing for pseudoxanthoma elasticum (PXE) caused by changes in the ABCC6 gene on Genereviews®.
PubMed: PubMed is a database of scientific articles and research papers. You can search for articles related to the ABCC6 gene, pseudoxanthoma elasticum, and other related topics on PubMed.
The ABCC6 Registry: The ABCC6 Registry is a registry for individuals with pseudoxanthoma elasticum caused by mutations in the ABCC6 gene. It collects and shares information about the disease and provides resources for patients, families, and healthcare professionals.
The Gahl Lab: The Gahl Lab at the National Institutes of Health (NIH) studies rare genetic diseases, including pseudoxanthoma elasticum. Their website provides information on the genetic basis, clinical features, and ongoing research for this condition.

These resources can provide more in-depth information on the ABCC6 gene, its function, associated diseases, and testing options. They are valuable references for scientists, healthcare professionals, and individuals interested in learning more about this gene and its role in health and disease.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a list of tests related to the ABCC6 gene. These tests can help diagnose diseases such as pseudoxanthoma elasticum, a genetic disorder characterized by abnormal calcification of various tissues in the body. The GTR is a valuable resource for individuals and healthcare professionals seeking information on genetic testing options.

The GTR contains a variety of tests for the ABCC6 gene, including genetic tests that can identify changes or variants in the gene. These tests can be used to diagnose pseudoxanthoma elasticum and other related conditions. By analyzing the genetic information in an individual’s DNA, these tests can provide important insights into the presence of genetic abnormalities.

Several databases and resources are available through the GTR to access more information about these tests. PubMed articles, Genereviews, and OMIM are examples of scientific and clinical resources that can provide additional information on the ABCC6 gene and related conditions.

In addition to genetic tests, the GTR also lists other tests related to pseudoxanthoma elasticum and the ABCC6 gene. These tests may include biochemical tests to measure calcium and mineral levels, as well as tests to assess the function of the ABCC6 gene and its role in the transport of pyrophosphate, an inhibitor of arterial calcification.

The GTR provides a comprehensive and up-to-date catalog of tests, along with information on the names of the tests, the diseases they are associated with, and the health conditions they can diagnose. By using the GTR, healthcare professionals and individuals can access valuable information to better understand and manage pseudoxanthoma elasticum and related conditions.

Scientific Articles on PubMed

The ABCC6 gene, also known as the ATP-binding cassette sub-family C member 6 gene, has been the subject of numerous scientific articles available on PubMed. This gene is associated with the condition pseudoxanthoma elasticum (PXE), which is characterized by abnormal mineralization and calcification of body tissues, including the eyes, arterial walls, and skin.

PubMed is a widely-used database that provides access to a vast collection of scientific articles on various diseases and conditions. By searching for “ABCC6 gene” in PubMed, researchers and healthcare professionals can find relevant studies and resources related to PXE and other conditions associated with this gene.

One article from PubMed, titled “Pseudoxanthoma Elasticum” and published in the New England Journal of Medicine, provides a comprehensive overview of the clinical features, genetic changes, and health implications of PXE. This article serves as a valuable resource for understanding the impact of ABCC6 gene mutations.

In addition to PubMed, other databases such as OMIM (Online Mendelian Inheritance in Man) and GeneReviews® also provide information on the ABCC6 gene and related conditions. OMIM offers a detailed summary of the gene and its associated diseases, while GeneReviews® provides reviews and expert recommendations on the diagnosis, management, and genetic testing for PXE.

Various scientific articles published in reputable journals are available on PubMed, offering insights into the function of the ABCC6 gene and its role in mineral transport. These studies investigate the relationship between ABCC6 gene mutations and the abnormal accumulation of calcium and other minerals in affected tissues.

Furthermore, the ABCC6 gene is related to conditions beyond PXE. Research articles listed on PubMed explore its involvement in multidrug resistance and the transport of pyrophosphate, an inhibitor of mineralization. These studies contribute to a better understanding of the broader role of the ABCC6 gene in various biological processes.

Catalog of Genes and Diseases from OMIM

The ABCC6 gene is responsible for the production of a protein that plays a role in the transport of certain minerals, including calcium and pyrophosphate. Mutations in this gene can lead to abnormal calcification in various tissues of the body, resulting in a condition called pseudoxanthoma elasticum (PXE).

Pseudoxanthoma elasticum is a rare genetic disorder characterized by the generalized calcification of elastic fibers in the skin, eyes, and blood vessels. This condition can lead to changes in the normal structure and function of these tissues, which can cause a variety of health problems, including arterial calcification and vision impairment.

The ABCC6 gene is listed in the OMIM database, a comprehensive catalog of genes and genetic diseases. OMIM provides scientific and clinical information on genetic disorders, including names, descriptions, and references to scientific articles and additional resources. The specific entry for the ABCC6 gene can be found in the OMIM database with the OMIM number 603234.

In addition to the OMIM database, other resources for information on the ABCC6 gene and related conditions include the GeneReviews® website, which provides expert-authored, peer-reviewed articles on genetic diseases, and PubMed, a database of scientific articles in the field of biomedicine.

Testing for mutations in the ABCC6 gene is available for individuals with suspected PXE or other conditions related to ABCC6 dysfunction. Genetic testing can help confirm a diagnosis, provide information on disease prognosis, and assist in making informed decisions about treatment options.

Patients and healthcare providers can access information on genetic testing and available testing resources through the PXE International Registry, a registry that collects data on individuals with PXE and related conditions. The registry serves as a valuable source of information for patients, researchers, and healthcare professionals.

List of Genes and Diseases from OMIM
Gene	Disease
ABCC6	Pseudoxanthoma elasticum
Other genes	Other related diseases

Overall, the ABCC6 gene and pseudoxanthoma elasticum are important topics in the field of genetics and clinical research. Understanding the function and variants of this gene can provide insights into the underlying mechanisms of calcification disorders and may lead to the development of new diagnostic tests and treatment options.

For more information on the ABCC6 gene, pseudoxanthoma elasticum, and related conditions, please refer to the OMIM database, GeneReviews®, and PubMed.

Gene and Variant Databases

The ABCC6 gene and its associated variants have been extensively characterized and studied in various genetic and clinical databases. These databases serve as valuable resources for researchers, clinicians, and individuals interested in understanding the function and impact of ABCC6 gene mutations.

One such database is GeneReviews®, which provides a comprehensive catalog of genetic conditions, including those related to ABCC6 gene variants. The database contains information on the clinical presentation, genetic testing, and management of various diseases associated with ABCC6 gene abnormalities. It also offers references to relevant scientific articles, making it a valuable source of information for genetic and health professionals.

Another notable resource is OMIM (Online Mendelian Inheritance in Man), which provides detailed information on genes and genetic disorders. Users can find an extensive list of ABCC6 gene variants and their associated phenotypes in OMIM, along with references to scientific publications and genetic testing resources.

The National Center for Biotechnology Information’s PubMed database is a widely used resource for accessing scientific publications. By searching for “ABCC6 gene” or specific ABCC6 variants, researchers can find articles on various aspects of ABCC6-related diseases, including the molecular mechanisms, clinical manifestations, and potential therapeutic approaches.

In addition to these general genetic databases, there are specialized databases specific to certain diseases associated with ABCC6 gene mutations. For example, the Pseudoxanthoma Elasticum (PXE) International Registry is a comprehensive database that collects clinical and genetic information on individuals affected by PXE. The database aims to facilitate research, diagnosis, and treatment of PXE by providing a centralized repository of information.

Furthermore, the Multidrug Resistance Protein 6 (MRP6) is another name for the ABCC6 gene due to its function as a transporter of various substances, including drugs and minerals. The MRP6 database provides detailed information on the structure, function, and potential inhibitors of this transporter protein, which can be valuable for researchers studying the role of ABCC6 gene variants in multidrug resistance and mineral transport.

Overall, these gene and variant databases provide valuable resources for understanding the ABCC6 gene, its variants, and their associated diseases. Whether in search of clinical information, genetic testing resources, scientific articles, or related databases, researchers and clinicians can rely on these databases to expand their knowledge on ABCC6-related conditions and facilitate further research.

References

ABCC6 gene – Genetics Home Reference. U.S. National Library of Medicine. Available at https://ghr.nlm.nih.gov/gene/ABCC6.
Pseudoxanthoma elasticum – Genetics Home Reference. U.S. National Library of Medicine. Available at https://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum.
ABCC6 – ATP-binding cassette sub-family C member 6 – Homo sapiens (Human) – ABCC6 gene & protein. Available at https://www.uniprot.org/uniprot/O95255.
ABCC6 – ATP-binding cassette sub-family C member 6 [Homo sapiens (Human)] – Gene – NCBI. Available at https://www.ncbi.nlm.nih.gov/gene/368.
Li Q, et al. ABCC6 knockdown leads to activation of ER stress/ROS/HIF-1α pathway attenuating osteogenic differentiation of bone marrow mesenchymal stem cells. Int J Biol Macromol. 2018 Oct;118(Pt A):175-182. doi: 10.1016/j.ijbiomac.2018.06.179. Epub 2018 Jun 26. PubMed PMID: 29959015.
Kool M, de Haas M, Scheffer GL, Scheper RJ, van Eijk MJ, Juijn JA, Baas F, Borst P. Analysis of expression of cMOAT (MRP2), MRP3, MRP4, and MRP5, homologues of the multidrug resistance-associated protein gene (MRP1), in human cancer cell lines. Cancer Res. 1997 Oct 1;57(19):3537-47. PubMed PMID: 9377579.
Gahl WA, et al. The National Institutes of Health Pseudoxanthoma Elasticum (PXE) Research Registry: Ten years of experience. J Transl Med. 2015 Aug 20;13:377. doi: 10.1186/s12967-015-0702-7. PubMed PMID: 26289919; PubMed Central PMCID: PMC4546508.
Pyrophosphate transporter ABCC6 and pseudoxanthoma elasticum. Biochemical Society Transactions. Available at https://doi.org/10.1042/BST0380376.
PXELink – PXE International. Available at https://www.pxe.org/pxelink.
Catalog of Genes and Diseases – Genecards. Available at https://www.genecards.org/.
Pseudoxanthoma elasticum – OMIM – Johns Hopkins University. Available at https://omim.org/entry/264800.
Disease – Pseudoxanthoma Elasticum – NCBI Bookshelf. Available at https://www.ncbi.nlm.nih.gov/books/NBK1111/.