Full name: biogenesis of lysosomal organelles complex 1 subunit 3

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: BLOS3; HPS8; RP

Summary: This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]

Expression: Ubiquitous expression in spleen (RPKM 2.9), skin (RPKM 2.7) and 25 other tissues

Gene size: 38300bp

Exon count: 6