BLOC1S3
biogenesis of lysosomal organelles complex-1, subunit 3
Synonyms:
BLOS3, HPS8, RP
Species:
Human BLOC1S3 (388552), Mouse Bloc1s3 (232946), Rat Bloc1s3 (680476), cow BLOC1S3 (538539), Zebrafish bloc1s3 (553529), chicken BLOC1S3 (426500), domestic guinea pig Bloc1s3 (100733013), naked mole-rat Bloc1s3 (101723139), sheep BLOC1S3 (101112341), dog BLOC1S3 (612307)
UniProtKB ID:
Gene ID:
- Human(388552) 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]
- Mouse(232946) biogenesis of lysosome-related organelles complex-1, subunit 3
- Rat(680476) biogenesis of lysosomal organelles complex-1, subunit 3
- cow(538539) biogenesis of lysosomal organelles complex-1, subunit 3
- Zebrafish(553529) biogenesis of lysosomal organelles complex-1, subunit 3
- chicken(426500) biogenesis of lysosomal organelles complex-1, subunit 3
- domestic guinea pig(100733013) biogenesis of lysosomal organelles complex-1, subunit 3
- naked mole-rat(101723139) biogenesis of lysosomal organelles complex-1, subunit 3
- sheep(101112341) biogenesis of lysosomal organelles complex-1, subunit 3
- dog(612307) biogenesis of lysosomal organelles complex-1, subunit 3
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