Gene Symbol | VPS13A |
Entrez Gene ID | 23230 |
Full Name | vacuolar protein sorting 13 homolog A |
Synonyms | CHAC,CHOREIN |
General protein information |
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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) |