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Genetics Home Reference: your guide to understanding genetic conditions
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VPS13A

Reviewed May 2008

What is the official name of the VPS13A gene?

The official name of this gene is “vacuolar protein sorting 13 homolog A (S. cerevisiae).”

VPS13A is the gene's official symbol. The VPS13A gene is also known by other names, listed below.

What is the normal function of the VPS13A gene?

The VPS13A gene provides instructions for producing a protein called chorein. Chorein is found in various tissues throughout the body. The function of this protein is unknown. Some researchers believe that chorein plays a role in the movement of proteins within cells.

How are changes in the VPS13A gene related to health conditions?

chorea-acanthocytosis - caused by mutations in the VPS13A gene

Approximately 75 mutations in the VPS13A gene have been found to cause chorea-acanthocytosis. Most of these mutations insert or delete one or more building blocks of DNA (nucleotides) in the VPS13A gene. These changes in the gene lead to the production of an abnormally small, nonfunctional version of chorein. Many of the mutations are specific to single families, although people with chorea-acanthocytosis who are French-Canadian or Japanese tend to have a mutation that is specific to their population. It is unclear why mutations in the VPS13A gene affect only the brain and red blood cells, causing the signs and symptoms of chorea-acanthocytosis.

Where is the VPS13A gene located?

Cytogenetic Location: 9q21

Molecular Location on chromosome 9: base pairs 77,177,352 to 77,417,482

The VPS13A gene is located on the long (q) arm of chromosome 9 at position 21.

The VPS13A gene is located on the long (q) arm of chromosome 9 at position 21.

More precisely, the VPS13A gene is located from base pair 77,177,352 to base pair 77,417,482 on chromosome 9.

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 VPS13A?

You and your healthcare professional may find the following resources about VPS13A helpful.

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

What other names do people use for the VPS13A gene or gene products?

  • CHAC
  • CHOREIN
  • FLJ42030
  • KIAA0986
  • vacuolar protein sorting 13A
  • VP13A_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 VPS13A?

chorea ; DNA ; gene ; mutation ; population ; protein ; trans-Golgi network

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

References

  • Dobson-Stone C, Danek A, Rampoldi L, Hardie RJ, Chalmers RM, Wood NW, Bohlega S, Dotti MT, Federico A, Shizuka M, Tanaka M, Watanabe M, Ikeda Y, Brin M, Goldfarb LG, Karp BI, Mohiddin S, Fananapazir L, Storch A, Fryer AE, Maddison P, Sibon I, Trevisol-Bittencourt PC, Singer C, Caballero IR, Aasly JO, Schmierer K, Dengler R, Hiersemenzel LP, Zeviani M, Meiner V, Lossos A, Johnson S, Mercado FC, Sorrentino G, Dupré N, Rouleau GA, Volkmann J, Arpa J, Lees A, Geraud G, Chouinard S, Németh A, Monaco AP. Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis. Eur J Hum Genet. 2002 Nov;10(11):773-81. (http://www.ncbi.nlm.nih.gov/pubmed/12404112?dopt=Abstract)
  • Dobson-Stone C, Velayos-Baeza A, Jansen A, Andermann F, Dubeau F, Robert F, Summers A, Lang AE, Chouinard S, Danek A, Andermann E, Monaco AP. Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis. Neurogenetics. 2005 Sep;6(3):151-8. Epub 2005 Sep 28. (http://www.ncbi.nlm.nih.gov/pubmed/15918062?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/23230)
  • Rampoldi L, Dobson-Stone C, Rubio JP, Danek A, Chalmers RM, Wood NW, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Brown R, Vance J, Pericak-Vance M, Rudolf G, Carrè S, Alonso E, Manfredi M, Németh AH, Monaco AP. A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet. 2001 Jun;28(2):119-20. (http://www.ncbi.nlm.nih.gov/pubmed/11381253?dopt=Abstract)
  • Ueno S, Maruki Y, Nakamura M, Tomemori Y, Kamae K, Tanabe H, Yamashita Y, Matsuda S, Kaneko S, Sano A. The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis. Nat Genet. 2001 Jun;28(2):121-2. (http://www.ncbi.nlm.nih.gov/pubmed/11381254?dopt=Abstract)
  • OMIM: VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, A (http://omim.org/entry/605978)
  • Velayos-Baeza A, Vettori A, Copley RR, Dobson-Stone C, Monaco AP. Analysis of the human VPS13 gene family. Genomics. 2004 Sep;84(3):536-49. (http://www.ncbi.nlm.nih.gov/pubmed/15498460?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: May 2008
Published: December 16, 2014