Biogenesis Of Lysosomal Organelles Complex 1, Subunit 4 (BLOC1S4)

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.

The mouse and human proteins share 77% overall sequence identity. There are no predicted transmembrane domains, suggesting that the protein is cytosolic. Northern blot analysis detected ubiquitous expression of an approximately 1.35-kb CNO transcript. An additional, high molecular mass band was detected in skeletal muscle.