HPS5 Antibody

1. This case underscores the importance of recognizing the mild clinical phenotype of HPS-5 and utilization of both laboratory and molecular testing for diagnosis, prognostication, and surveillance for end organ damage in patients affected with HPS. PMID: 29090612
2. HPS5 mutation is associated with high hypopigmentation in Hermansky-Pudlak syndrome. PMID: 27593200
3. We report a 92-year-old man with HPS 5 who, to our knowledge, is the oldest patient with HPS documented in the literature. PMID: 23607980
4. Seven mutations (six previously unreported) were described in the HPS1, HPS4, and HPS5 genes among Hermansky-Pudlak Syndrome patients of Mexican, Uruguayan, Honduran, Cuban, Venezuelan, and Salvadoran ancestries. PMID: 21833017
5. Component of BLOC-2. Results suggest a common biological basis underlying the pathogenesis of HPS-3, -5 and -6 disease. PMID: 15030569
6. LAMP-3 distribution was restricted to the perinuclear region in HPS-5 fibroblasts, instead of extending to the periphery PMID: 15296495
7. Tyrosinase and TYRP1 are mistrafficked, however, and fail to be efficiently delivered to melanosomes of HPS-5 melanocytes PMID: 17301833

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HGNC: 17022

OMIM: 607521

KEGG: hsa:11234

STRING: 9606.ENSP00000265967

UniGene: Hs.437599