Hermansky-Pudlak Syndrome 6 Proteine (HPS6)

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.

alle Proteine anzeigen Gen GeneID UniProt
HPS6 79803 Q86YV9
HPS6 20170 Q8BLY7
Ratte HPS6 HPS6 309446 Q7M733
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Top HPS6 Proteine auf antikoerper-online.de

Showing 3 out of 3 products:

Katalog Nr. Origin Quelle Konjugat Bilder Menge Anbieter Lieferzeit Preis Details
Insektenzellen Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 70 Days
$13,984.89
Details
Insektenzellen Maus His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 70 Days
$13,984.89
Details
Wheat germ Human GST tag 10 μg Anmelden zum Anzeigen 11 bis 12 Tage
$414.29
Details

HPS6 Proteine nach Spezies und Herkunft

Origin Exprimiert in Konjugat
Human ,
,
Mouse (Murine)

Weitere Proteine zu Hermansky-Pudlak Syndrome 6 (HPS6) Interaktionspartnern

Human Hermansky-Pudlak Syndrome 6 (HPS6) Interaktionspartner

  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 (zeige DCTN1 Proteine) to mediate retrograde trafficking and maturation of lysosomes

  6. Mutation of the protein-trafficking gene Hps6 increased sensitivity of melanoma cells to cis (zeige CISH Proteine)-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 (zeige HPS3 Proteine), -5 and -6 disease.

Mouse (Murine) Hermansky-Pudlak Syndrome 6 (HPS6) Interaktionspartner

  1. BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor (zeige VWF Proteine) 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 (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.

  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 (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).

HPS6 Protein Überblick

Protein Überblick

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.

Genbezeichner und Symbole assoziert mit 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 Protein
  • BLOC2 Protein
  • Hsp6 Protein
  • RP11-302K17.1 Protein
  • ru Protein

Bezeichner auf Proteinebene für 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 SPEZIES
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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