Entrez gene ID | | 23230 |
Official gene symbol | | VPS13A |
Full name | | vacuolar protein sorting 13 homolog A (S. cerevisiae) |
Aliases | | ,CHAC,CHOREIN,FLJ42030,KIAA0986, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 9 Locus: 9q21 |
Gene position | | 79792361 - 80032399 Map Viewer |
Gene orientation | | plus |
Gene size | | 240039 bp |
Gene sequence |
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OMIM ID | | 605978 |