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C223113Level 4

VAC14 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human VAC14 wild-type allele is located in the vicinity of 16q22.1-q22.2 and is approximately 114 kb in length. This allele, which encodes protein VAC14 homolog protein, plays a role in regulation of the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Mutations in the gene are associated with childhood-onset striatonigral degeneration.

**Synonyms:** - ARPIKFYVE - ArPIKfyve - FLJ10305 - TAX1BP2 - TRX - Tax1 (Human T-Cell Leukemia Virus Type I) Binding Protein 2 Gene - VAC14 Associated Regulator of PIKFYVE Gene - VAC14 Component of PIKFYVE Complex wt Allele - VAC14, S. cerevisiae, Homolog of Gene - Vac14 Homolog (S. cerevisiae) Gene - Vac14, PIKFYVE Complex Component Gene

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