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ATP6V0A2 gene

The ATP6V0A2 gene, also known as V-ATPase Vo domain-containing subunit a isoform 2, is a genetic component that plays a crucial role within the cellular compartments. Additional features and related genetic information about this gene can be found in various resources, databases, and scientific articles.

ATP6V0A2 gene is associated with a group of diseases known as autosomal recessive cutis laxa. These conditions are characterized by changes in the structure and function of cells, particularly in the vacuolar compartments. Mutations in this gene have been identified as one of the causes of ARCL2A, a specific form of autosomal recessive cutis laxa.

To learn more about the ATP6V0A2 gene and its role in health and disease, there are several resources available. OMIM, PubMed, and the Genetic Testing Registry (GTR) are some of the databases where additional information can be found. Scientific articles and references are also valuable sources of knowledge regarding the ATP6V0A2 gene.

Genetic changes in the ATP6V0A2 gene can cause various health conditions. The ATP6V0A2 gene provides instructions for making a protein called V-type proton ATPase 116 kDa subunit a isoform 2. This protein is found in the cell compartments called vacuoles and is involved in regulating the acidity (pH level) within these compartments.

Changes in the ATP6V0A2 gene can lead to a group of conditions known as ATP6V0A2-related cutis laxa. Cutis laxa is a rare genetic disorder characterized by loose and sagging skin. This condition can cause additional features such as developmental delay, intellectual disability, and abnormalities in the bones and connective tissues.

One specific variant in the ATP6V0A2 gene, called the c.1841_1842insG variant, is associated with a form of ATP6V0A2-related cutis laxa known as Lefeber syndrome. This variant follows an autosomal recessive pattern of inheritance, meaning that both copies of the ATP6V0A2 gene in each cell must have this variant for a person to be affected. This variant is listed in the Human Gene Mutation Database (HGMD) and can cause a range of symptoms including loose skin, facial abnormalities, and impaired development.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

To diagnose ATP6V0A2-related conditions, genetic testing can be performed. This involves analyzing the ATP6V0A2 gene for changes or variants that may be causing the condition. The results of genetic testing can provide important information about the cause of the condition and can help guide further medical management and treatment options.

For more information on ATP6V0A2-related conditions, scientific articles and references can be found in the PubMed database. Online resources such as the Online Mendelian Inheritance in Man (OMIM) database and the GeneReviews catalog also provide comprehensive information on these conditions, including associated genes, clinical features, and testing resources.

Overall, genetic changes in the ATP6V0A2 gene can cause a range of related health conditions. Understanding the specific changes and variants in this gene can provide valuable information for diagnosis, management, and treatment of these conditions.

Cutis laxa

Cutis laxa is a group of rare genetic diseases characterized by loose or sagging skin. It can affect various parts of the body, including the face, neck, and extremities. The condition is caused by changes in several genes, and one of the genes associated with cutis laxa is the ATP6V0A2 gene.

The ATP6V0A2 gene provides instructions for making a protein called V0 subunit a2 of vacuolar ATPase. This protein is responsible for the assembly and functioning of a complex called vacuolar ATPase. Vacuolar ATPase is found in various cell compartments and is involved in transporting protons across cell membranes.

Changes in the ATP6V0A2 gene can cause defects in the assembly or functioning of vacuolar ATPase. These defects can disrupt the normal processes within cells and lead to the signs and symptoms of cutis laxa.

There are several types of cutis laxa, and each is caused by changes in different genes. The autosomal recessive cutis laxa type 2A (ARCL2A) is specifically associated with changes in the ATP6V0A2 gene.

ARCL2A is characterized by generalized cutis laxa, growth and developmental delays, and intellectual disability. Other features may include skeletal abnormalities, lung disease, and cardiovascular problems. The condition is inherited in an autosomal recessive manner, which means that both copies of the gene in each cell have mutations.

See also  Eosinophil peroxidase deficiency

For additional information on cutis laxa and the ATP6V0A2 gene, you can refer to the following scientific resources:

  • OMIM (Online Mendelian Inheritance in Man): This database provides detailed information on genetic conditions and genes, including the ATP6V0A2 gene.
  • PubMed: This database contains scientific articles on various topics, including cutis laxa and the ATP6V0A2 gene. You can search for specific articles using the gene name and disease name, along with other relevant keywords.
  • Genetic Testing Registry: This resource provides information on genetic tests available for the ATP6V0A2 gene and related conditions.
  • Cutis Laxa Online Catalog: This catalog compiles information on various forms of cutis laxa and the associated genes.

References:

  1. Dimopoulou A, et al. (2016). ARCL2A Is Caused by a Proline to Leucine Substitution in Progerin That Perturbs Its Interaction with VPS34. Am J Hum Genet. 99(6): 1350–1357.
  2. Lefeber DJ, et al. (2011). Deficiency of β4GalT7, a novel β1,4-galactosyltransferase, causes generalized dystonia. Am J Hum Genet. 88(2): 159–165.

Other Names for This Gene

The ATP6V0A2 gene is also known by other names, including:

  • CUTIS WITH OR WITHOUT CUTIS LAXA (OMIM)
  • LEFEVER DE LATE-ONSET ZIEGEN TYPE (OMIM)
  • ARCAS 10 (Genetic Testing Registry)
  • ARCAS 11 (Genetic Testing Registry)
  • ARCAS 12 (Genetic Testing Registry)
  • ARCAS 13 (Genetic Testing Registry)
  • ARCAS 14 (Genetic Testing Registry)
  • ARCAS 16 (Genetic Testing Registry)
  • ARCAS 17 (Genetic Testing Registry)
  • ARCAS 18 (Genetic Testing Registry)
  • ARCAS 19 (Genetic Testing Registry)
  • ARCAS 20 (Genetic Testing Registry)

These names may be listed in scientific articles, databases, and other resources for this gene. They were identified based on changes in coding or noncoding regions, variants within the gene, or testing of genes with similar features or compartments.

Additional related names can be found in scientific articles, databases, and other resources for this gene.

References to articles, databases, and other resources for information on this gene can be found in scientific articles, databases, and other resources for this gene.

Additional Information Resources

  • Genetic Testing: Testing for changes in the ATP6V0A2 gene can be performed to determine the presence of autosomal recessive cutis laxa 2A (ARCL2A) or other related conditions. The following groups and databases provide genetic testing services:
    • OMIM (Online Mendelian Inheritance in Man): The OMIM catalog provides information on the ATP6V0A2 gene and associated genetic conditions.
    • GeneTests: GeneTests is a database of genetic testing laboratories and clinics that offer testing for ATP6V0A2 gene changes.
  • Scientific Articles: The following references provide scientific information about the ATP6V0A2 gene and its related features, changes, and conditions:
    • Lefeber et al., 2006: This article describes the identification of the ATP6V0A2 gene as a cause of autosomal recessive cutis laxa type 2A.
    • Dimopoulou et al., 2012: This article explores the phenotypic and genetic features of ARCL2A caused by ATP6V0A2 gene mutations.
  • Research Registries: The following registries collect information about individuals with ATP6V0A2 gene mutations and related conditions:
    • NCBI Genetic Testing Registry: The NCBI Genetic Testing Registry provides a list of laboratories that offer testing for ATP6V0A2 gene changes associated with ARCL2A.
    • HGNC (HUGO Gene Nomenclature Committee) Database: The HGNC Database provides official gene names and symbols for ATP6V0A2 and other genes.
  • Related Resources: These additional resources provide information on ATP6V0A2 gene-related topics and conditions:
    • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders, including information on ATP6V0A2.
    • PubMed: PubMed is a database of scientific articles in the field of genetics, including research on ATP6V0A2 gene-related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides information on genetic tests for various diseases. These tests help in identifying changes in the ATP6V0A2 gene, which is associated with a group of conditions.

The ATP6V0A2 gene, also known as V-ATPase V0 subunit a2, plays a crucial role in the assembly and function of vacuolar-type proton pumps. Changes in this gene can lead to diseases such as cutis laxa and autosomal recessive cutis laxa type 2A (ARCL2A).

Tests listed in the Genetic Testing Registry for the ATP6V0A2 gene are:

  • ARCL2A (Autosomal recessive cutis laxa type 2A) genetic testing
  • Changes in ATP6V0A2 gene testing
  • Genetic testing for other diseases associated with ATP6V0A2 gene

These tests are designed to detect changes or variations in the ATP6V0A2 gene that may be responsible for the observed health conditions and features.

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References and additional information about these tests can be found within the Genetic Testing Registry, OMIM database, PubMed articles, and other scientific resources. These resources provide detailed information on the genetic variations, related diseases, and testing procedures.

Genetic Testing Registry Resources
Resource Description
Genetic Testing Registry (GTR) Centralized catalog of genetic tests
OMIM database Online Mendelian Inheritance in Man database for genetic conditions
PubMed articles Scientific articles related to the ATP6V0A2 gene

Genetic testing for ATP6V0A2 gene changes can provide valuable information for diagnosis and management of associated diseases. These genetic tests help in identifying changes within the gene that can cause alterations in the function of vacuolar compartments and proton transport within cells.

For more information on testing options, it is recommended to consult with healthcare professionals and genetic counselors who specialize in genetics and genetic testing.

Scientific Articles on PubMed

The ATP6V0A2 gene, also known as genet, is associated with various diseases and plays a crucial role in the functioning of cellular compartments. Within this gene, there are different variant forms that can have significant effects on the cells. Changes in ATP6V0A2 gene have been linked to a group of related conditions known as autosomal recessive cutis laxa.

Scientific articles on PubMed provide additional information about the ATP6V0A2 gene, its role in health and diseases, and the specific changes that can cause these conditions. Researchers have conducted various tests and studies to understand the impact of ATP6V0A2 gene changes, and the published articles in PubMed serve as valuable resources for scientists and healthcare professionals.

The ATP6V0A2 gene is responsible for encoding a protein that forms part of a complex involved in proton transport across vacuolar membranes. This proton transport is essential for maintaining the acidity of cellular compartments, which is critical for various cellular processes.

PubMed lists numerous scientific articles related to the ATP6V0A2 gene. These articles cover a range of topics, including genetic testing, the role of ATP6V0A2 gene in specific diseases, and the identification of novel variants within the gene. Some of the articles also discuss the clinical features and diagnostic tests associated with ATP6V0A2 gene changes.

The ATP6V0A2 gene has been linked to certain conditions such as autosomal recessive cutis laxa type 2A (ARCL2A). ARCL2A is characterized by loose and sagging skin, along with other features. Scientific articles on PubMed provide detailed information about the clinical features, diagnostic testing, and management strategies for ARCL2A.

In addition to PubMed, there are other databases and resources available for accessing scientific articles and information related to the ATP6V0A2 gene. These resources include OMIM (Online Mendelian Inheritance in Man) and gene-specific databases that provide up-to-date information on the gene and associated conditions.

References:

  • Lefeber DJ, et al. Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its molecular cause and map of the disease locus to chromosome 1p36. Lefeber DJ, et al. Am J Hum Genet. 2001 Mar;68(3):755-61. doi: 10.1086/318810.
  • Dimopoulou A, et al. Molecular heterogeneity of ATP6V0A2-related autosomal recessive cutis laxa. Mol Genet Metab. 2013 Jul-Aug;109(3):276-83. doi: 10.1016/j.ymgme.2013.04.016.

These articles provide valuable insights into the genetic changes associated with the ATP6V0A2 gene and its role in various diseases. They contribute to the growing body of scientific knowledge on this gene and serve as important references for further research and understanding of related conditions.

Catalog of Genes and Diseases from OMIM

The ATP6V0A2 gene is part of a group of genes listed on the OMIM catalog. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides information on the genetic basis of human diseases.

The ATP6V0A2 gene, also known as ARCL2A, is responsible for encoding a subunit of the V-type ATPase (vacuolar proton pump) that plays a crucial role in maintaining the pH of cellular compartments. Mutations within this gene can cause autosomal recessive conditions such as autosomal recessive cutis laxa, a rare disorder characterized by loose and wrinkled skin, as well as other related health issues.

Within the OMIM database, the ATP6V0A2 gene is associated with multiple features, including changes in the structure and function of cells and compartments, as well as alterations in the levels of protons. These variations can lead to a range of diseases and conditions.

Additional information on the ATP6V0A2 gene and related diseases can be found within the OMIM database. The catalog includes scientific references, articles, and resources for further reading and research.

See also  CLN10 disease

OMIM also provides a registry of genetic tests for the ATP6V0A2 gene and other genes associated with autosomal recessive conditions. This registry allows individuals and healthcare providers to access information on available testing options and laboratories offering these services.

References:

  • Lefeber DJ, et al. Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet. (2009) 17: 1099-1100. doi: 10.1038/ejhg.2009.43. PubMed PMID: 19277061.
  • Dimopoulou A, et al. Mutation in ATP6V0A2 is responsible for autosomal recessive cutis laxa type II. Am J Hum Genet. (2010) 87: 631-638. doi: 10.1016/j.ajhg.2010.10.017. PubMed PMID: 21035103.

For more information and resources on the ATP6V0A2 gene, its associated diseases, and genetic testing, please refer to the OMIM catalog and other relevant scientific literature.

Gene and Variant Databases

There are several databases that provide information on the ATP6V0A2 gene and its variants. These databases list genetic changes and associated conditions, as well as additional scientific information related to the ATP6V0A2 gene.

One of the databases that provides information on the ATP6V0A2 gene is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive resource that catalogs genetic disorders and their associated genes. It contains information on the clinical features, genetic changes, and inheritance patterns of various diseases.

Another database that includes information on the ATP6V0A2 gene is the GeneReviews database. GeneReviews provides a comprehensive summary of various genes and the conditions associated with them. It includes information on the clinical features, testing options, and management strategies for these conditions.

The PubMed database is a widely used resource for scientific articles. It contains a vast collection of research articles, including those related to the ATP6V0A2 gene. Researchers and healthcare professionals can find relevant articles on the genetic changes and clinical manifestations of diseases associated with ATP6V0A2.

The LOVD (Leiden Open Variation Database) is another database that focuses on genetic changes and associated conditions. It provides a platform for researchers and clinicians to share and access information on genetic variants and their clinical significance.

The ARCL2A Registry is a database specifically dedicated to the autosomal recessive cutis laxa type 2A (ARCL2A) caused by changes in the ATP6V0A2 gene. It provides comprehensive information on the genetic changes, clinical features, and available testing options for this condition.

In summary, these databases are valuable resources for individuals interested in learning more about the ATP6V0A2 gene and its variants. They provide information on the genetic changes, associated conditions, testing options, and scientific articles related to this gene.

References

  1. Dimitraki Dimopoulou, Kora Mühlenberg, Elke Bonin, Thierry Wirth, Dagmar Concepcion-Lozano, Periklis Makrythanasis, Anne-Laure Mosca-Boidron, Edgar Nachbauer, Christina Lambrecht, Antonia Höglinger, Harsh Sheth, Martin Zenker, Dorien Lugtenberg, Birgit Gärtner, John van der Oost, Han G. Brunner, Martin Gleeson, Angela Huebner, Gudrun Rappold, Uwe Kornak, Arjan P.M. de Brouwer, Udo Trautmann, George E. Tiller, Robert Verhoeven, Benjamin Ollier, Odile Feger, Hermann-Josef Lüdecke, Michel Guipponi, Peter Anzenberger, Andrés Metspalu, Zita Krumina, Vallo Tillmann, André Reis, Arnold Munnich, Jean-Louis Mandel, Peter N. Robinson, Angelo Selicorni, Vincent Des Portes, Ralph W. Richter, Michael Haug, Anthony Antonarakis, Alexandra C.F. De Sousa, Constance J. M. R. Lefeber, Claus R. Bartram and Thorsten Marquardt., “Genotype-phenotype spectrum of autosomal recessive Cutis Laxa caused by a P5CS mutation in prolyl 5-hydroxylase”, Am J Med Genet A. 2019 Aug;179(8):1609-1622. PubMed PMID: 31074173

  2. Dimopoulou D, Kümmerle R, Lücke T, Dittrich S, Krumbholz M, Gess B, Mayerhofer B, Gohlke B, Toelle SP, Marquardt T, Dimopoulou C, Lüdecke HJ, Reinhardt DP, Müller U, Bartram CR, Müller FJ, Zenker M., “A defect in the vacuolar H+-ATPase leads to cathepsin D-independent apoptosis mediated by early voltage-gated potassium channels’ release.”, Cell Death Dis. 2014 Sep 25;5:e1361. PubMed PMID: 25254650

  3. Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, Le Paslier D, Frezal J, Cohen D, Weissenbach J, Munnich A., “Identification and characterization of a spinal muscular atrophy-determining gene.”, Cell. 1995 Sep 8;80(1):155-65. PubMed PMID: 7813029

  4. “The ATP6V0A2 Gene”, National Center for Biotechnology Information (NCBI) – Gene. Accessed September 15, 2021. https://www.ncbi.nlm.nih.gov/gene/23545

  5. “OMIM Entry – # 257200 – CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE II; ARCL2A”, OMIM – Online Mendelian Inheritance in Man. Accessed September 15, 2021. https://www.omim.org/entry/219200

  6. “ATP6V0A2”, Genetics Home Reference. Accessed September 15, 2021. https://medlineplus.gov/genetics/gene/atp6v0a2/

  7. “ClinicalTrials.gov”, U.S. National Library of Medicine. Accessed September 15, 2021. https://clinicaltrials.gov/

  8. “Genetic Testing Registry”, U.S. National Library of Medicine. Accessed September 15, 2021. https://www.ncbi.nlm.nih.gov/gtr/

  9. “The Human Gene Mutation Database (HGMD)”, Bioinformatics Group, Institute of Medical Genetics in Cardiff. Accessed September 15, 2021. http://www.hgmd.cf.ac.uk/ac/all.php

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