PIP5K1C( Human )

Entrez Gene 23396 Entrez Gene 23396
phosphatidylinositol-4-phosphate 5-kinase type 1 gamma

Alias

LCCS3|PIP5K-GAMMA|PIP5K1-gamma|PIP5Kgamma

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].

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