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Genetics Home Reference: your guide to understanding genetic conditions
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ATP6V0A2

Reviewed June 2009

What is the official name of the ATP6V0A2 gene?

The official name of this gene is “ATPase, H+ transporting, lysosomal V0 subunit a2.”

ATP6V0A2 is the gene's official symbol. The ATP6V0A2 gene is also known by other names, listed below.

What is the normal function of the ATP6V0A2 gene?

The ATP6V0A2 gene provides instructions for making one part, the a2 subunit, of a large protein complex (a group of proteins that work together). This protein complex is known as a vacuolar H+-ATPase (V-ATPase). A V-ATPase acts as a pump to move positively charged hydrogen atoms (protons) across cell membranes.

V-ATPases are embedded in the membranes surrounding cells, where they transport protons into and out of cells. This movement of protons helps regulate the relative acidity (pH) of cells and their surrounding environment. Tight control of pH is necessary for most biological reactions to proceed properly.

Within cells, V-ATPases help regulate the pH of particular cell compartments. These compartments include endosomes and lysosomes, which digest and recycle materials that the cell no longer needs. Studies suggest that V-ATPases are also involved in the movement (trafficking) of small sac-like structures called vesicles. Vesicles transport many types of molecules within cells.

V-ATPases also play a key role in a complex process called glycosylation, in which proteins are modified by adding sugar molecules. Glycosylation is necessary for the normal function of many different kinds of proteins. V-ATPases regulate the pH of a cellular structure called the Golgi apparatus, where glycosylation occurs.

Does the ATP6V0A2 gene share characteristics with other genes?

The ATP6V0A2 gene belongs to a family of genes called ATP (ATPase superfamily).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the ATP6V0A2 gene related to health conditions?

cutis laxa - caused by mutations in the ATP6V0A2 gene

At least 18 mutations in the ATP6V0A2 gene have been identified in people with cutis laxa. ATP6V0A2 mutations cause a form of the disorder called autosomal recessive cutis laxa type II, which is characterized by loose, sagging skin and distinctive facial features. Some affected individuals also have delayed development, intellectual disability, seizures, and problems with movement that can worsen over time.

Mutations in the ATP6V0A2 gene prevent the cell from producing a functional a2 subunit, which disrupts the normal function of V-ATPases. It is unclear how these genetic changes cause the signs and symptoms of cutis laxa. Researchers suspect that changes in V-ATPase function may disrupt the normal glycosylation of proteins, including several that are involved in the assembly and maintenance of elastic fibers. Elastic fibers are slender bundles of proteins that provide strength and flexibility to connective tissue (tissue that supports the body's joints and organs). People with cutis laxa have a reduced density of elastic fibers, which weakens connective tissue in the skin, lungs, and other organs. These defects in connective tissue underlie many of the major features of the disorder.

Where is the ATP6V0A2 gene located?

Cytogenetic Location: 12q24.31

Molecular Location on chromosome 12: base pairs 124,196,864 to 124,246,301

The ATP6V0A2 gene is located on the long (q) arm of chromosome 12 at position 24.31.

The ATP6V0A2 gene is located on the long (q) arm of chromosome 12 at position 24.31.

More precisely, the ATP6V0A2 gene is located from base pair 124,196,864 to base pair 124,246,301 on chromosome 12.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about ATP6V0A2?

You and your healthcare professional may find the following resources about ATP6V0A2 helpful.

  • Educational resources - Information pages

    • Molecular Biology of the Cell (fourth edition, 2002): What Is the Purpose of Glycosylation? (http://www.ncbi.nlm.nih.gov/books/NBK26941/)
    • Molecular Cell Biology (fourth edition, 2000): V-Class H+ ATPases Pump Protons across Lysosomal and Vacuolar Membranes (http://www.ncbi.nlm.nih.gov/books/NBK21481/)
  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK5200/)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for ATP6V0A2 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=23545%5Bgeneid%5D)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(ATP6V0A2%5BTIAB%5D)%20OR%20((V-ATPase%5BTIAB%5D)%20AND%20(a2%5BTIAB%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/611716)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_ATP6V0A2.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/23545)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=23545)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=18481)

What other names do people use for the ATP6V0A2 gene or gene products?

  • A2V-ATPase
  • ATP6a2
  • ATP6N1D
  • J6B7
  • Stv1
  • TJ6
  • TJ6M
  • TJ6s
  • Vph1
  • VPP2_HUMAN

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding ATP6V0A2?

acidity ; autosomal ; autosomal recessive ; cell ; congenital ; connective tissue ; elastic ; endosomes ; gene ; glycosylation ; Golgi apparatus ; pH ; protein ; proton ; recessive ; subunit ; syndrome ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/23545)
  • Guillard M, Dimopoulou A, Fischer B, Morava E, Lefeber DJ, Kornak U, Wevers RA. Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. Biochim Biophys Acta. 2009 Sep;1792(9):903-14. doi: 10.1016/j.bbadis.2008.12.009. Epub 2009 Jan 8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19171192?dopt=Abstract)
  • Hucthagowder V, Morava E, Kornak U, Lefeber DJ, Fischer B, Dimopoulou A, Aldinger A, Choi J, Davis EC, Abuelo DN, Adamowicz M, Al-Aama J, Basel-Vanagaite L, Fernandez B, Greally MT, Gillessen-Kaesbach G, Kayserili H, Lemyre E, Tekin M, Türkmen S, Tuysuz B, Yüksel-Konuk B, Mundlos S, Van Maldergem L, Wevers RA, Urban Z. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet. 2009 Jun 15;18(12):2149-65. doi: 10.1093/hmg/ddp148. Epub 2009 Mar 25. (http://www.ncbi.nlm.nih.gov/pubmed/19321599?dopt=Abstract)
  • Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F; ARCL Debré-type Study Group, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet. 2008 Jan;40(1):32-4. Epub 2007 Dec 23. (http://www.ncbi.nlm.nih.gov/pubmed/18157129?dopt=Abstract)
  • Marshansky V, Futai M. The V-type H+-ATPase in vesicular trafficking: targeting, regulation and function. Curr Opin Cell Biol. 2008 Aug;20(4):415-26. doi: 10.1016/j.ceb.2008.03.015. Epub 2008 May 27. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18511251?dopt=Abstract)
  • Marshansky V. The V-ATPase a2-subunit as a putative endosomal pH-sensor. Biochem Soc Trans. 2007 Nov;35(Pt 5):1092-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17956287?dopt=Abstract)
  • Morava E, Lefeber DJ, Urban Z, de Meirleir L, Meinecke P, Gillessen Kaesbach G, Sykut-Cegielska J, Adamowicz M, Salafsky I, Ranells J, Lemyre E, van Reeuwijk J, Brunner HG, Wevers RA. Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. Eur J Hum Genet. 2008 Jan;16(1):28-35. Epub 2007 Oct 31. (http://www.ncbi.nlm.nih.gov/pubmed/17971833?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: June 2009
Published: June 17, 2013