Analysis of SNAPIN Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-0315-LGZ)

Introduction

Official Full Name: SNAP associated protein<br />Also known as: BLOS7; BORCS3; SNAPAP; BLOC1S7<br />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 BLOCK-1 complex is required for the biogenesis of specialized organelles such as melanosomes and platelet dense granules. Mutations in gene products that form the BLOCK-1 complex have been identified in mouse strains that model Hermansky-Pudlak syndrome. Alternative splicing results in multiple transcript variants.