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This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Zusätzlich bieten wir Ihnen HPS6 Antikörper (40) und HPS6 Kits (17) und viele weitere Produktgruppen zu diesem Protein an.
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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
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.
Biallelic, truncating mutations in HPS6 were identified by candidate Sanger sequencing and included a novel variant.
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.
HPS6 interacts with dynactin p150Glued (zeige DCTN1 Proteine) to mediate retrograde trafficking and maturation of lysosomes
Mutation of the protein-trafficking gene Hps6 increased sensitivity of melanoma cells to cis (zeige CISH Proteine)-diaminedichloroplatinum II treatment.
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.
Component of BLOC-2. Results suggest a common biological basis underlying the pathogenesis of HPS-3 (zeige HPS3 Proteine), -5 and -6 disease.
BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor (zeige VWF Proteine) from mouse endothelial cells
BLOC-2 functions to direct recycling endosomal tubular transport intermediates to maturing melanosomes and thereby promote cargo delivery and optimal pigmentation.
The product of the Mreg(dsu (zeige MREG Proteine)) locus, melanoregulin (MREG (zeige MREG Proteine)), interacts both with members of BLOC-2 complex and with ocular albinism in regulating melanosome size.
Data suggest functional links between OCA2 and the BLOC-1, BLOC-2, and AP-3 protein complexes involved in melanosome biogenesis.
The identification of the feeble mutation led to our subsequent observations that AP-3 (zeige AP3B1 Proteine), as well as the BLOC-1 (zeige PLDN Proteine) and BLOC-2 are essential for plasmacytoid dendritic cells signaling through TLR7 (zeige TLR7 Proteine) and TLR9 (zeige TLR9 Proteine).
This intronless 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 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6.
Hermansky-Pudlak syndrome 6
, Hermansky-Pudlak syndrome-6
, Hermansky-Pudlak syndrome 6 protein-like
, Hermansky-Pudlak syndrome 6 protein
, Hermansky-Pudlak syndrome-6 protein (HPS6)
, ruby-eye protein homolog
, Hermansky-Pudlak syndrome 6 protein homolog
, ruby eye
, ruby-eye protein
, ruby-eye-like protein