Aliases for VAC14 Gene
External Ids for VAC14 Gene
Previous HGNC Symbols for VAC14 Gene
Previous GeneCards Identifiers for VAC14 Gene
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]
GeneCards Summary for VAC14 Gene
VAC14 (Vac14, PIKFYVE Complex Component) is a Protein Coding gene. Diseases associated with VAC14 include Striatonigral Degeneration, Childhood-Onset and Striatonigral Degeneration. Among its related pathways are HTLV-I infection and PI Metabolism. GO annotations related to this gene include binding and receptor activity.
UniProtKB/Swiss-Prot for VAC14 Gene
The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Acts as a positive activator of PIKfyve kinase activity. Also required to maintain normal levels of phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 5-phosphate (PtdIns(5)P). Plays a role in the biogenesis of endosome carrier vesicles (ECV) / multivesicular bodies (MVB) transport intermediates from early endosomes.