BLOC1S3, biogenesis of lysosomal organelles complex 1 subunit 3

BLOC1S3, biogenesis of lysosomal organelles complex 1 subunit 3

• 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]

• Gene Synonyms (BLOS3, HPS8, RP, biogenesis of lysosome-related organelles complex 1 subunit 3, BLOC-1 subunit 3, biogenesis of lysosome-related organelles complex-1, subunit 3, reduced pigmentation, mouse, homolog of,)
• NCBI Gene ID: 388552
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q6QNY0
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

biogenesis of lysosomal organelles complex 1 subunit 3 interacts with:

• biogenesis of lysosomal organelles complex 1 subunit 3

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