phosphatidylinositol-4-phosphate 5-kinase type 1 gamma

PIP5Kgamma

KIAA0589

LCCS3

phosphatidylinositol-4-phosphate 5-kinase, type I, gamma

Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma

Type I phosphatidylinositol 4-phosphate 5-kinase gamma

PIP5K1gamma

PtdIns(4)P-5-kinase 1 gamma

Phosphatidylinositol-4-phosphate 5-Kinase

This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010].

Varaico: Literature-Extracted Genetic Variants

PIP5K1C

RefSeq Summary

Pfam Domains

Gene Aliases

HGNC Name

HGNC Alias Symbols