VAC14 gene

Vac14, PIKFYVE complex component

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Striatonigral degeneration, childhood-onset

From UniProt:

Striatonigral degeneration, childhood-onset (SNDC): An autosomal recessive neurological disorder characterized by sudden childhood onset of developmental regression. Affected children develop impaired movements with dystonia, progressively become non-ambulatory and non-verbal, and exhibit striatal abnormalities on MRI. [MIM:617054]

Cytogenetic Location: 16q22.1-q22.2, which is the long (q) arm of chromosome 16 between positions 22.1 and 22.2

Molecular Location: base pairs 70,687,439 to 70,801,169 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16q22.1-q22.2, which is the long (q) arm of chromosome 16 between positions 22.1 and 22.2
  • ArPIKfyve
  • TAX1BP2
  • TRX