VPS13A explained

VPS13A (Vacuolar protein sorting-associated protein 13A) is a protein that in humans is encoded by the VPS13A gene.^{[1] [2] [3]}

Function

The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea acanthocytosis. Alternative splicing of this gene results in multiple transcript variants.^[3]

Further reading

• Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O . Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro . DNA Research . 6 . 1 . 63–70 . Feb 1999 . 10231032 . 10.1093/dnares/6.1.63 . free .
• Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W, Zago MA, Bordin S, Costa FF, Goldman GH, Carvalho AF, Matsukuma A, Baia GS, Simpson DH, Brunstein A, de Oliveira PS, Bucher P, Jongeneel CV, O'Hare MJ, Soares F, Brentani RR, Reis LF, de Souza SJ, Simpson AJ . Shotgun sequencing of the human transcriptome with ORF expressed sequence tags . Proceedings of the National Academy of Sciences of the United States of America . 97 . 7 . 3491–6 . Mar 2000 . 10737800 . 16267 . 10.1073/pnas.97.7.3491 . 2000PNAS...97.3491D . free .
• 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 . Nature Genetics . 28 . 2 . 121–2 . Jun 2001 . 11381254 . 10.1038/88825 . 29708129 .
• Bohlega S, Al-Jishi A, Dobson-Stone C, Rampoldi L, Saha P, Murad H, Kareem A, Roberts G, Monaco AP . Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula . Movement Disorders . 18 . 4 . 403–7 . Apr 2003 . 12671946 . 10.1002/mds.10361 . 34308711 .
• Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J, Stanton LW . Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation . Nature Biotechnology . 22 . 6 . 707–16 . Jun 2004 . 15146197 . 10.1038/nbt971 . 27764390 .
• Velayos-Baeza A, Vettori A, Copley RR, Dobson-Stone C, Monaco AP . Analysis of the human VPS13 gene family . Genomics . 84 . 3 . 536–49 . Sep 2004 . 15498460 . 10.1016/j.ygeno.2004.04.012 .
• 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 . 6 . 3 . 151–8 . Sep 2005 . 15918062 . 10.1007/s10048-005-0220-9 . 10875246 .

External links

• GeneReviews/NCBI/NIH/UW entry on Chorea-acanthocytosis

Notes and References

1. Rubio JP, Danek A, Stone C, Chalmers R, Wood N, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Manfredi M, Vance J, Pericak-Vance M, Brown R, Rudolf G, Picard F, Alonso E, Brin M, Németh AH, Farrall M, Monaco AP . Chorea-acanthocytosis: genetic linkage to chromosome 9q21 . American Journal of Human Genetics . 61 . 4 . 899–908 . Oct 1997 . 9382101 . 1715977 . 10.1086/514876 .
2. 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 . Nature Genetics . 28 . 2 . 119–20 . Jun 2001 . 11381253 . 10.1038/88821 . 2754015 .
3. Web site: Entrez Gene: VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae).