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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.
Showing 10 out of 27 products:
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 references for ABIN1881436
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 Antibodies).
We report a 92-year-old man with HPS 5 who, to our knowledge, is the oldest patient with HPS (show HPS1 Antibodies) documented in the literature.
Seven mutations (six previously unreported) were described in the HPS1 (show HPS1 Antibodies), HPS4 (show HPS4 Antibodies), and HPS5 genes among Hermansky-Pudlak Syndrome patients of Mexican, Uruguayan, Honduran, Cuban, Venezuelan, and Salvadoran ancestries.
Component of BLOC-2 (show HPS6 Antibodies). Results suggest a common biological basis underlying the pathogenesis of HPS-3 (show HPS3 Antibodies), -5 and -6 disease.
LAMP-3 (show CD63 Antibodies) distribution was restricted to the perinuclear region in HPS-5 fibroblasts, instead of extending to the periphery
Tyrosinase (show TYR Antibodies) and TYRP1 (show TYRP1 Antibodies) 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