| Protein Name | VAC14 component of PIKFYVE complex |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 55697 |
| Gene Symbol | VAC14 |
| UniProt | Q08AM6 (VAC14_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
19
Total Number of Articles : 37 |
Description |
VAC14 component of PIKFYVE complex |
| 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] |
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