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VAC14

VAC14 component of PIKFYVE complex
2 disorders 2 causative 16q22.1-q22.2 gene with protein product
HGNC:25507MonarchNCBI Gene 55697ENSG00000103043UniProt Q08AM6OMIM 604632

Previous symbols: TAX1BP2. Aliases: FLJ10305, ArPIKfyve.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Childhood-Onset Striatonigral Degeneration causative germline loss of function
mechanism: Biallelic VAC14 Variants; Impaired PI(3,5)P2 Synthesis
Yunis-Varon Syndrome causative germline loss of function
mechanism: Biallelic VAC14 Loss of Function

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.