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HPS5

Official Full Name
HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
Organism
Homo sapiens
GeneID
11234
Background
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Synonyms
AIBP63; BLOC2S2;

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