VPS13A

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.

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• {{cite journal | vauthors = Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O | title = 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 | journal = DNA Research | volume = 6 | issue = 1 | pages = 63–70 | date = Feb 1999 | pmid = 10231032 | doi = 10.1093/dnares/6.1.63 | doi-access = free }}
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• {{cite journal | vauthors = Ueno S, Maruki Y, Nakamura M, Tomemori Y, Kamae K, Tanabe H, Yamashita Y, Matsuda S, Kaneko S, Sano A | title = The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis | journal = Nature Genetics | volume = 28 | issue = 2 | pages = 121–2 | date = Jun 2001 | pmid = 11381254 | doi = 10.1038/88825 | s2cid = 29708129 }}
• {{cite journal | vauthors = Bohlega S, Al-Jishi A, Dobson-Stone C, Rampoldi L, Saha P, Murad H, Kareem A, Roberts G, Monaco AP | title = Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula | journal = Movement Disorders | volume = 18 | issue = 4 | pages = 403–7 | date = Apr 2003 | pmid = 12671946 | doi = 10.1002/mds.10361 | s2cid = 34308711 }}
• {{cite journal | vauthors = 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 | title = Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation | journal = Nature Biotechnology | volume = 22 | issue = 6 | pages = 707–16 | date = Jun 2004 | pmid = 15146197 | doi = 10.1038/nbt971 | s2cid = 27764390 }}
• {{cite journal | vauthors = Velayos-Baeza A, Vettori A, Copley RR, Dobson-Stone C, Monaco AP | title = Analysis of the human VPS13 gene family | journal = Genomics | volume = 84 | issue = 3 | pages = 536–49 | date = Sep 2004 | pmid = 15498460 | doi = 10.1016/j.ygeno.2004.04.012 }}
• {{cite journal | vauthors = 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 | title = Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis | journal = Neurogenetics | volume = 6 | issue = 3 | pages = 151–8 | date = Sep 2005 | pmid = 15918062 | doi = 10.1007/s10048-005-0220-9 | s2cid = 10875246 }}

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• [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=chac GeneReviews/NCBI/NIH/UW entry on Chorea-acanthocytosis]

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