VAC14

Chr 16

VAC14 component of PIKFYVE complex

Also known as: ArPIKfyve, TAX1BP2, TRX

NCBI Gene: 55697 ENSG00000103043 UniProt: Q08AM6

This protein functions as a scaffold component of the PIKfyve kinase complex, which synthesizes phosphatidylinositol 3,5-bisphosphate for cellular membrane integrity. Mutations cause autosomal recessive childhood-onset striatonigral degeneration characterized by progressive movement disorders, dystonia, and striatal abnormalities. The pathogenic mechanism involves neurodegeneration resulting from disrupted phosphoinositide metabolism and endosomal membrane dysfunction.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtStriatonigral degeneration, childhood-onset

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.42

LOEUF

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Mechanism

Some data sources returned errors (1)

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