The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/50 - 1/100.
1/100 - 1/500. Detects a band of approximately 70 kDa (predicted molecular weight: 74 kDa).
功能Plays a role in membrane ruffling and assembly of clathrin-coated pits at the synapse. Mediates RAC1-dependent reorganization of actin filaments (By similarity). Participates in the biosynthesis of phosphatidylinositol-4,5-bisphosphate.
疾病相关Defects in PIP5K1C are the cause of lethal congenital contracture 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.
序列相似性Contains 1 PIPK domain.
细胞定位Cell membrane. Cytoplasmic, associated with the plasma membrane. Detected in focal adhesion plaques, membrane ruffles and plasma membrane invaginations.
ab71820 at 1/50 dilution, staining PIP5KI gamma in human hepatocarcinoma by Immunohistochemistry, Formalin-fixed, Paraffin-embedded tissue, followed by peroxidase-conjugated secondary antibody and AEC staining.