Gene Symbol | VAC14 |
Entrez Gene ID | 55697 |
Full Name | Vac14, PIKFYVE complex component |
Synonyms | ArPIKfyve,TAX1BP2,TRX |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a scaffold protein that is a component of the PIKfyve protein kinase complex. This complex is responsible for the synthesis of phosphatidylinositol 3,5-bisphosphate, an important component of cellular membranes, from phosphatidylinositol 3-phosphate. Mice lacking a functional copy of this gene exhibit severe neurodegeneration. Mutations in the human gene have been identified in patients with a childhood onset progressive neurological disorder characterized by impaired movement, dystonia, and striatal abnormalities. [provided by RefSeq, May 2017]. |
Disorder MIM: | |
Disorder Html: | Striatonigral degeneration, childhood-onset, 617054 (3) |