SNAPIN Antibody

The protein encoded by this gene is a coiled-coil-forming protein that associates with the SNARE (soluble N-ethylmaleimide-sensitive fusion protein attachment protein receptor) complex of proteins and the BLOC-1 (biogenesis of lysosome-related organelles) complex. Biochemical studies have identified additional binding partners. As part of the SNARE complex, it is required for vesicle docking and fusion and regulates neurotransmitter release. The BLOC-1 complex is required for the biogenesis of specialized organelles such as melanosomes and platelet dense granules. Mutations in gene products that form the BLOC-1 complex have been identified in mouse strains that are models of Hermansky-Pudlak syndrome. Alternative splicing results in multiple transcript variants.

BLOC1S7, SNAP25BP, SNAPAP, SNARE-associated protein Snapin, Biogenesis of lysosome-related organelles complex 1 subunit 7, BLOC-1 subunit 7, BLOS7, BLOC1S7, SNAREassociated protein Snapin, Synaptosomal-associated protein 25 binding protein, SNAP-associated protein