Gene Symbol | BLOC1S3 |
Entrez Gene ID | 388552 |
Full Name | biogenesis of lysosomal organelles complex 1 subunit 3 |
Synonyms | BLOS3,HPS8,RP |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Hermansky-Pudlak syndrome 8, 614077 (3) |