Gene: VAC14

Alternate names for this Gene: ArPIKfyve|TAX1BP2|TRX

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.

Gene is located in Chromosome: 16

Location in Chromosome : 16q22.1-q22.2

Description of this Gene: VAC14 component of PIKFYVE complex

Type of Gene: protein-coding

Gene: VAC14-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs762388639 in VAC14;VAC14-AS1 gene and STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET PMID 27292112 2016 Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.