Function
Plays a role in endocytosis and regulates internalization of plasma membrane proteins. Overexpression impairs internalization of SLC2A1/GLUT1 and TRPV4 and increases the levels of SLC2A1/GLUT1 and TRPV4 at the cell membrane. Inhibits the TRPV4 calcium channel activity.
Biological Context
Subcellular Location: Cytoplasm; Cell membrane (Peripheral membrane protein)
Tissue Specificity: Widely expressed, with highest levels in heart and skeletal muscle, intermediate levels in placenta, liver and pancreas, and very low levels in brain, lung and kidney
Disease Association: Congenital myopathy 27 (CMYO27) : A form of congenital myopathy, a clinically and genetically heterogeneous group of muscle disorders characterized by hypotonia and muscle weakness typically noticed at birth or during the neonatal period, and specific pathological features on muscle biopsy. CMYO27 is an autosomal recessive form with mild features beginning in early childhood. Affected children show delayed motor development, exercise intolerance, and easy fatigability. Serum creatine kinase is increased. Fiber size variation and atrophic fibers are seen on muscle biopsy. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Mouse anti-Human/Mouse/Rat sapiens (Human) PACSIN3 Monoclonal Antibody is a recombinant protein. Suitable for ELISA and Western Blot applications. Explore more Antibody products →

