HPS5 Products

Description

HPS5 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]

Bioinformatics

Entrez	11234 Human
Uniprot	AAH33640.1 Human NM_007216 Human NP_852609 Human
Product By Gene ID	11234
Alternate Names	AIBP63 alpha integrin binding protein 63 Alpha-integrin-binding protein 63 Hermansky-Pudlak syndrome 5 KIAA1017Hermansky-Pudlak syndrome 5 protein RU2 Ru2 Ruby-eye protein 2 homolog