Recombinant Human Hermansky-Pudlak syndrome 6 protein (HPS6)

1. Identification of a novel mutation in HPS6 in an individual with hemophilia B shows that, although quite rare, patients may be diagnosed with two independent inherited bleeding disorders. No evidence of lung disease was found in this adult patient with Hermansky-Pudlak syndrome subtype 6 PMID: 27641950
2. the novel loss-of-function variant in the HPS6 subunit of biogenesis of lysosome-related organelles complex 2 is pathologic and leads to a reduced platelet dense granules and their release. The findings are compatible with an impaired platelet function and hence an enhanced bleeding risk. PMID: 27917594
3. Biallelic, truncating mutations in HPS6 were identified by candidate Sanger sequencing and included a novel variant. PMID: 26823395
4. we report novel HPS6 mutations as the first report of HPS6 mutations in the Japanese population. The clinical features in the two sisters suggest OA. Although the patients in this study showed no bleeding problem, we could establish a diagnosis of HPS-6 by WES. PMID: 27225848
5. HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes PMID: 25189619
6. Mutation of the protein-trafficking gene Hps6 increased sensitivity of melanoma cells to cis-diaminedichloroplatinum II treatment. PMID: 22203954
7. Molecular studies showed a variety of mutations in the single exon HPS6 gene, including frame shift, missense, and nonsense mutations as well as a approximately 20 kb deletion spanning the entire HPS6 genomic region. PMID: 19843503
8. Component of BLOC-2. Results suggest a common biological basis underlying the pathogenesis of HPS-3, -5 and -6 disease. PMID: 15030569

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HGNC: 18817

OMIM: 607522

KEGG: hsa:79803

STRING: 9606.ENSP00000299238

UniGene: Hs.125133