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hps5

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Official Full Name
Hermansky-Pudlak syndrome 5
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.
Synonyms
HPS5; Hermansky-Pudlak syndrome 5; Hermansky-Pudlak syndrome 5 protein; ruby-eye protein 2 homolog; alpha integrin binding protein 63; alpha-integrin-binding protein 63; AIBP63; KIAA1017; zgc:162420; snw; snow white