蛋白名称
Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma
免疫原
The antiserum was produced against synthesized peptide derived from human PIP5K1C. AA range:305-354
特异性
PIPK I γ Polyclonal Antibody detects endogenous levels of PIPK I γ protein.
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
来源
Polyclonal, Rabbit,IgG
稀释比例
Western Blot: 1/500 - 1/2000. ELISA: 1/20000. Not yet tested in other applications.
纯化工艺
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
PIP5K1C; KIAA0589; Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma; PIP5K1-gamma; PtdIns(4)P-5-kinase 1 gamma; Phosphatidylinositol 4-phosphate 5-kinase type I gamma; PIP5KIgamma
背景
phosphatidylinositol-4-phosphate 5-kinase type 1 gamma(PIP5K1C) Homo sapiens 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],
功能
catalytic activity:ATP + 1-phosphatidyl-1D-myo-inositol 4-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate.,disease:Defects in PIP5K1C are the cause of lethal congenital contractural syndrome type 3 (LCCS3) [MIM:611369]; also known as multiple contractural syndrome Israeli Bedouin type B. LCCS is an autosomal recessive disorder characterized by early fetal hydrops and akinesia, the Pena-Shokeir phenotype, specific neuropathology with degeneration of anterior horn neurons and extreme skeletal muscle atrophy. LCCS3 patients present at birth with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs. LCCS3 can be distinguished from the original LCCS by the absence of hydrops, fractures, and multiple pterygia.,enzyme regulation:Activated by interaction with TLN2.,function:Plays a role in membrane ruffling and assembly of clathrin-coate
