| Gene Symbol | VPS13A |
| Entrez Gene ID | 23230 |
| Full Name | vacuolar protein sorting 13 homolog A |
| Synonyms | CHAC,CHOREIN |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| 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, Jul 2008]. |
| Disorder MIM: | |
| Disorder Html: | Choreoacanthocytosis, 200150 (3) |







































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