PACSIN3
Description
The PACSIN3 (protein kinase C and casein kinase substrate in neurons 3) is a protein-coding gene located on chromosome 11.
PACSIN3 (Protein kinase C and casein kinase substrate in neurons protein 3) is an enzyme encoded by the PACSIN3 gene in humans. Biallelic truncating variants in the PACSIN3 gene have been linked to hyperCKemia and childhood onset myopathy. PACSIN3 interacts with PACSIN1 and PACSIN2.
PACSIN3 plays a role in endocytosis and regulates the internalization of plasma membrane proteins. Overexpression of PACSIN3 impairs the internalization of SLC2A1/GLUT1 and TRPV4, leading to increased levels of these proteins at the cell membrane. It also inhibits the TRPV4 calcium channel activity.
PACSIN3 is also known as SDPIII.
