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