PIKFYVE wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PIKFYVE wild-type allele is located in the vicinity of 2q34 and is approximately 93 kb in length. This allele, which encodes 1-phosphatidylinositol 3-phosphate 5-kinase protein, is involved in the phosphorylation of phosphatidylinositol and the metabolism of phosphatidylinositol 3,5-bisphosphate. Mutations in the gene cause corneal fleck dystrophy.

**Synonyms:** - CFD - FAB1 - FAB1, S. cerevisiae, Homolog of Gene - HEL37 - KIAA0981 - MGC40423 - PIP5K - Phosphatidylinositol 3-Phosphate 5-Kinase, Type III Gene - Phosphatidylinositol-3-Phosphate/Phosphatidylinositol 5-Kinase, Type III Gene - Phosphoinositide Kinase, FYVE Finger Containing Gene - Phosphoinositide Kinase, FYVE-Type Zinc Finger Containing wt Allele - ZFYVE29 - Zinc Finger, FYVE Domain Containing 29 Gene