anticorps LCCS3, anticorps PIP5K-GAMMA, anticorps PIP5Kgamma, anticorps PIPKIg_v4, anticorps MGC130766, anticorps PIP5K1C, anticorps AI115456, anticorps AI835305, anticorps Pip5kIgamma, anticorps phosphatidylinositol-4-phosphate 5-kinase type 1 gamma, anticorps phosphatidylinositol-4-phosphate 5-kinase, type I, gamma S homeolog, anticorps phosphatidylinositol-4-phosphate 5-kinase, type I, gamma, anticorps phosphatidylinositol-4-phosphate 5-kinase, type 1 gamma, anticorps PIP5K1C, anticorps Pip5k1c, anticorps pip5k1c.S, anticorps pip5k1c
Sujet
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.