VAC14

Name

VAC14 component of PIKFYVE complex

Type

protein-coding

Position

70,687,436–70,801,178 (−)

Aliases

ArPIKfyve, TAX1BP2, TRX

Ensembl

ENSG00000103043

RefSeq RNA

NM_001351157.2, NM_018052.5, XM_005256038.5, XM_011523225.4, XM_047434360.1

RefSeq protein

NP_001338086.1, NP_060522.3, XP_005256095.1, XP_011521527.1, XP_047290316.1

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].

via MyGene.info

Gene · Ensembl

VAC14 component of PIKFYVE complex

Symbol

VAC14

Biotype

Protein coding

Organism

Homo sapiens

Location

16:70,687,436-70,801,178

Strand

Reverse (−)

Assembly

GRCh38

Wikidata facts

Instance of

gene

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