Aliases for BLOC1S4 Gene
External Ids for BLOC1S4 Gene
Previous HGNC Symbols for BLOC1S4 Gene
This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008]
GeneCards Summary for BLOC1S4 Gene
BLOC1S4 (Biogenesis Of Lysosomal Organelles Complex 1 Subunit 4) is a Protein Coding gene. Diseases associated with BLOC1S4 include Hermansky-Pudlak Syndrome and Hermansky-Pudlak Syndrome 9. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. An important paralog of this gene is BCAS4.
UniProtKB/Swiss-Prot Summary for BLOC1S4 Gene
Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking.