| ncRNA Symbol: | VAC14 | | Full Name: | Vac14, PIKFYVE complex component | | Category: | mRNA | | Synonyms: | ArPIKfyve|TAX1BP2|TRX | | Chromosome: | chr16 | | Strand: | - | | Coordinate: | | Start Site(bp): | 70687439 | End Site(bp): | 70801161 | | | Gene 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] | | External Links: | |
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