BLOC1S5 Human
Description
BLOC1S5 is fused to a 23 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
Product Specs
Product Science Overview
The Biogenesis of Lysosomal Organelles Complex-1 (BLOC-1) is a multisubunit protein complex essential for the formation and function of lysosome-related organelles (LROs). These organelles include melanosomes, platelet dense granules, and other specialized compartments within cells. BLOC-1 is composed of eight subunits, one of which is Subunit 5, also known as BLOC1S5 or Muted .
BLOC-1 plays a crucial role in the biogenesis of LROs by participating in membrane trafficking and protein sorting within the endosomal-lysosomal system . It is involved in the proper sorting of lysosome-associated membrane proteins (LAMPs) and other cargo proteins from early endosomes to lysosomal compartments . The complex’s function extends beyond LROs, contributing to normal membrane biogenesis and vesicular trafficking .
Mutations in the BLOC1S5 gene are associated with Hermansky-Pudlak Syndrome (HPS), a genetic disorder characterized by albinism, bleeding disorders, and other systemic issues . Specifically, mutations in BLOC-1 subunits, including BLOC1S5, lead to defective LRO function, resulting in the clinical manifestations of HPS .
Research on BLOC1S5 has provided insights into its role in various cellular processes and its implications in diseases. Studies using mouse models have shown that mutations in the muted gene result in phenotypes similar to HPS, such as light eyes and muted brown fur . Additionally, BLOC1S5 has been implicated in neurological functions, with potential links to schizophrenia .
Recombinant human BLOC1S5 protein is used in research to study its structure, function, and interactions with other proteins within the BLOC-1 complex. Understanding these interactions is crucial for developing therapeutic strategies for diseases associated with BLOC-1 dysfunction.
