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HPS5 encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Additionally we are shipping HPS5 Kits (12) and HPS5 Proteins (4) and many more products for this protein.
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Human Polyclonal HPS5 Primary Antibody for WB - ABIN1881436
Helip-Wooley, Westbroek, Dorward, Koshoffer, Huizing, Boissy, Gahl: Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5. in The Journal of investigative dermatology 2007
Show all 5 Pubmed References
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.
Hermansky-Pudlak syndrome 5 protein
, alpha integrin binding protein 63
, alpha-integrin-binding protein 63
, ruby-eye protein 2 homolog
, Hermansky-Pudlak syndrome 5
, Hermansky-Pudlak syndrome 5 protein homolog
, ruby eye 2
, ruby-eye protein 2