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HPS5 encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes.
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HPS5 mutation is associated with high hypopigmentation in Hermansky-Pudlak syndrome.
We report a 92-year-old man with HPS 5 who, to our knowledge, is the oldest patient with HPS (显示 HPS1 ELISA试剂盒) documented in the literature.
Seven mutations (six previously unreported) were described in the HPS1 (显示 HPS1 ELISA试剂盒), HPS4 (显示 HPS4 ELISA试剂盒), and HPS5 genes among Hermansky-Pudlak Syndrome patients of Mexican, Uruguayan, Honduran, Cuban, Venezuelan, and Salvadoran ancestries.
Component of BLOC-2 (显示 HPS6 ELISA试剂盒). Results suggest a common biological basis underlying the pathogenesis of HPS-3 (显示 HPS3 ELISA试剂盒), -5 and -6 disease.
LAMP-3 (显示 CD63 ELISA试剂盒) distribution was restricted to the perinuclear region in HPS-5 fibroblasts, instead of extending to the periphery
Tyrosinase (显示 TYR ELISA试剂盒) and TYRP1 (显示 TYRP1 ELISA试剂盒) are mistrafficked, however, and fail to be efficiently delivered to melanosomes of HPS-5 melanocytes
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 (显示 AP3B1 ELISA试剂盒).
Nonsense Mutation in HPS5 gene is associated with hypopigmentation in colitis mice.
Effects of the ru2(d) allele on pheomelanin synthesis were investigated.
These results suggest that the ru2(d) allele suppresses the differentiation of melanocytes through the inhibition of eumelanin synthesis, but stimulates pheomelanin synthesis in melanocytes.
These results suggest that the ru2(d) allele inhibits melanocyte differentiation, and that its impaired differentiation is rescued by excess tyrosine.
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