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