VPS13A gene
vacuolar protein sorting 13 homolog A
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.
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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.
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Cytogenetic Location: 9q21.2, which is the long (q) arm of chromosome 9 at position 21.2
Molecular Location: base pairs 77,177,353 to 77,421,537 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)
Related Information
- CHAC
- CHOREIN
- FLJ42030
- KIAA0986
- vacuolar protein sorting 13 homolog A (S. cerevisiae)
- vacuolar protein sorting 13A
- VP13A_HUMAN
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- 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.
- 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.
- 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.
- 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.
- OMIM: VACUOLAR PROTEIN SORTING 13, YEAST, HOMOLOG OF, A
- 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.