Hermansky-Pudlak Syndrome 5 Proteine (HPS5)

HPS5 encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Zusätzlich bieten wir Ihnen HPS5 Antikörper (33) und HPS5 Kits (13) und viele weitere Produktgruppen zu diesem Protein an.

alle Proteine anzeigen Gen GeneID UniProt
HPS5 11234 Q9UPZ3
Ratte HPS5 HPS5 308598  
HPS5 246694 P59438
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Top HPS5 Proteine auf antikoerper-online.de

Showing 4 out of 4 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
HEK-293 Cells Human Myc-DYKDDDDK Tag Validation with Western Blot 20 μg Anmelden zum Anzeigen Verfügbar
$814.00
Details
Wheat germ Human GST tag 10 μg Anmelden zum Anzeigen 11 bis 12 Tage
$414.29
Details

HPS5 Proteine nach Spezies und Herkunft

Origin Exprimiert in Konjugat
Human , ,
, ,
Mouse (Murine)

Weitere Proteine zu Hermansky-Pudlak Syndrome 5 (HPS5) Interaktionspartnern

Human Hermansky-Pudlak Syndrome 5 (HPS5) Interaktionspartner

  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 (zeige HPS1 Proteine).

  2. HPS5 mutation is associated with high hypopigmentation in Hermansky-Pudlak syndrome.

  3. We report a 92-year-old man with HPS 5 who, to our knowledge, is the oldest patient with HPS (zeige HPS1 Proteine) documented in the literature.

  4. Seven mutations (six previously unreported) were described in the HPS1 (zeige HPS1 Proteine), HPS4 (zeige HPS4 Proteine), and HPS5 genes among Hermansky-Pudlak Syndrome patients of Mexican, Uruguayan, Honduran, Cuban, Venezuelan, and Salvadoran ancestries.

  5. Component of BLOC-2 (zeige HPS6 Proteine). Results suggest a common biological basis underlying the pathogenesis of HPS-3 (zeige HPS3 Proteine), -5 and -6 disease.

  6. LAMP-3 (zeige CD63 Proteine) distribution was restricted to the perinuclear region in HPS-5 fibroblasts, instead of extending to the periphery

  7. Tyrosinase (zeige TYR Proteine) and TYRP1 (zeige TYRP1 Proteine) are mistrafficked, however, and fail to be efficiently delivered to melanosomes of HPS-5 melanocytes

Zebrafish Hermansky-Pudlak Syndrome 5 (HPS5) Interaktionspartner

  1. The snw/hps5I76N mutant provides a valuable resource for structure-function analyses of Hps5 and enables further elucidation of the molecular and cellular mechanisms underlying HPS (zeige AP3B1 Proteine).

Mouse (Murine) Hermansky-Pudlak Syndrome 5 (HPS5) Interaktionspartner

  1. Nonsense Mutation in HPS5 gene is associated with hypopigmentation in colitis mice.

  2. Effects of the ru2(d) allele on pheomelanin synthesis were investigated.

  3. These results suggest that the ru2(d) allele suppresses the differentiation of melanocytes through the inhibition of eumelanin synthesis, but stimulates pheomelanin synthesis in melanocytes.

  4. These results suggest that the ru2(d) allele inhibits melanocyte differentiation, and that its impaired differentiation is rescued by excess tyrosine.

HPS5 Protein Überblick

Protein Überblick

This 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 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene.

Genbezeichner und Symbole assoziert mit HPS5

  • HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 (HPS5)
  • HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 (Hps5)
  • Hermansky-Pudlak syndrome 5 (hps5)
  • Aa2-028 Protein
  • Ab1-018 Protein
  • AI646796 Protein
  • AIBP63 Protein
  • AL022647 Protein
  • C85120 Protein
  • haze Protein
  • hz Protein
  • maroon Protein
  • mr Protein
  • ru-2 Protein
  • ru2 Protein
  • zgc:162420 Protein

Bezeichner auf Proteinebene für HPS5

Hermansky-Pudlak syndrome 5 protein , alpha integrin binding protein 63 , alpha-integrin-binding protein 63 , ruby-eye protein 2 homolog , Hermansky-Pudlak syndrome 5 , Hermansky-Pudlak syndrome 5 protein homolog , ruby eye 2 , ruby-eye protein 2

GENE ID SPEZIES
11234 Homo sapiens
308598 Rattus norvegicus
423079 Gallus gallus
510165 Bos taurus
100036709 Xenopus (Silurana) tropicalis
100037388 Danio rerio
100049701 Sus scrofa
100446504 Pongo abelii
100549976 Meleagris gallopavo
100616949 Monodelphis domestica
246694 Mus musculus
100716300 Cavia porcellus
101119945 Ovis aries
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