Literature associating PACSIN3 and scapuloperoneal spinal muscular atrophy
PACSIN3 [ENSP00000440945]
Protein kinase C and casein kinase substrate in neurons protein 3; 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 (By similarity).
Synonyms: PACSIN3, PACSIN3p, hPACSIN3, A0A0C4DGG1, E9PIY1 ...