Aliases for PACSIN3 Gene
External Ids for PACSIN3 Gene
Previous GeneCards Identifiers for PACSIN3 Gene
This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
GeneCards Summary for PACSIN3 Gene
PACSIN3 (Protein Kinase C And Casein Kinase Substrate In Neurons 3) is a Protein Coding gene. Diseases associated with PACSIN3 include Hereditary Motor And Sensory Neuropathy, Type Iic and Metatropic Dysplasia. Among its related pathways are Vesicle-mediated transport and Clathrin-mediated endocytosis. Gene Ontology (GO) annotations related to this gene include lipid binding and cytoskeletal protein binding. An important paralog of this gene is PACSIN2.
UniProtKB/Swiss-Prot Summary for PACSIN3 Gene
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).