Hermansky-Pudlak Syndrome 6 蛋白 (HPS6)

This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. 再加上,我们可以发HPS6 抗体 (40)HPS6 试剂盒 (17)和数多这个蛋白质的别的产品。

列出全部蛋白 基因 基因ID UniProt
HPS6 79803 Q86YV9
HPS6 20170 Q8BLY7
大鼠 HPS6 HPS6 309446 Q7M733
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Insect Cells His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 70 Days
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Insect Cells 小鼠 His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 70 Days
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小麦胚 GST tag 10 μg Log in to see 11至12个工作日
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HPS6 蛋白 by Origin and Source

Origin 在表达 标记
Human ,
,
Mouse (Murine)

更多Hermansky-Pudlak Syndrome 6 (HPS6)互动伙伴

Human Hermansky-Pudlak Syndrome 6 (HPS6) interaction partners

  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

  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.

  3. Biallelic, truncating mutations in HPS6 were identified by candidate Sanger sequencing and included a novel variant.

  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.

  5. HPS6 interacts with dynactin p150Glued (显示 DCTN1 蛋白) to mediate retrograde trafficking and maturation of lysosomes

  6. Mutation of the protein-trafficking gene Hps6 increased sensitivity of melanoma cells to cis (显示 CISH 蛋白)-diaminedichloroplatinum II treatment.

  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.

  8. Component of BLOC-2. Results suggest a common biological basis underlying the pathogenesis of HPS-3 (显示 HPS3 蛋白), -5 and -6 disease.

Mouse (Murine) Hermansky-Pudlak Syndrome 6 (HPS6) interaction partners

  1. BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor (显示 VWF 蛋白) from mouse endothelial cells

  2. BLOC-2 functions to direct recycling endosomal tubular transport intermediates to maturing melanosomes and thereby promote cargo delivery and optimal pigmentation.

  3. The product of the Mreg(dsu (显示 MREG 蛋白)) locus, melanoregulin (MREG (显示 MREG 蛋白)), interacts both with members of BLOC-2 complex and with ocular albinism in regulating melanosome size.

  4. Data suggest functional links between OCA2 and the BLOC-1, BLOC-2, and AP-3 protein complexes involved in melanosome biogenesis.

  5. The identification of the feeble mutation led to our subsequent observations that AP-3 (显示 AP3B1 蛋白), as well as the BLOC-1 (显示 PLDN 蛋白) and BLOC-2 are essential for plasmacytoid dendritic cells signaling through TLR7 (显示 TLR7 蛋白) and TLR9 (显示 TLR9 蛋白).

蛋白简介HPS6

蛋白简介

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.

Gene names and symbols associated with HPS6

  • HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 (HPS6)
  • HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 (hps6)
  • HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 (Hps6)
  • 5330434M19Rik 蛋白
  • BLOC2 蛋白
  • Hsp6 蛋白
  • RP11-302K17.1 蛋白
  • ru 蛋白

Protein level used designations for HPS6

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 , ru , ruby-eye-like protein

GENE ID SPECIES
609471 Canis lupus familiaris
745320 Pan troglodytes
770328 Gallus gallus
100038145 Xenopus (Silurana) tropicalis
100472993 Ailuropoda melanoleuca
79803 Homo sapiens
100049675 Sus scrofa
511792 Bos taurus
20170 Mus musculus
309446 Rattus norvegicus
100720545 Cavia porcellus
101105705 Ovis aries
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