BLOC1S3( Human )

Entrez Gene 388552 Entrez Gene 388552
biogenesis of lysosomal organelles complex 1 subunit 3

Alias

BLOS3|HPS8

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].

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