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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 Antibodies (27) and HPS5 Proteins (4) and many more products for this protein.
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The snw/hps5I76N mutant provides a valuable resource for structure-function analyses of Hps5 and enables further elucidation of the molecular and cellular mechanisms underlying HPS (show AP3B1 ELISA Kits).
We report a 92-year-old man with HPS 5 who, to our knowledge, is the oldest patient with HPS (show HPS1 ELISA Kits) documented in the literature.
Seven mutations (six previously unreported) were described in the HPS1 (show HPS1 ELISA Kits), HPS4 (show HPS4 ELISA Kits), and HPS5 genes among Hermansky-Pudlak Syndrome patients of Mexican, Uruguayan, Honduran, Cuban, Venezuelan, and Salvadoran ancestries.
Component of BLOC-2 (show HPS6 ELISA Kits). Results suggest a common biological basis underlying the pathogenesis of HPS-3 (show HPS3 ELISA Kits), -5 and -6 disease.
LAMP-3 (show CD63 ELISA Kits) distribution was restricted to the perinuclear region in HPS-5 fibroblasts, instead of extending to the periphery
Tyrosinase (show TYR ELISA Kits) and TYRP1 (show TYRP1 ELISA Kits) are mistrafficked, however, and fail to be efficiently delivered to melanosomes of HPS-5 melanocytes
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
, Hermansky-Pudlak syndrome 5 protein
, alpha integrin binding protein 63
, alpha-integrin-binding protein 63
, ruby-eye protein 2 homolog