Hermansky-Pudlak Syndrome 5 Protéines (HPS5)

HPS5 encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. De plus, nous expédions HPS5 Anticorps (33) et HPS5 Kits (13) et beaucoup plus de produits pour cette protéine.

afficher tous les protéines Gène GeneID UniProt
HPS5 11234 Q9UPZ3
Rat HPS5 HPS5 308598  
HPS5 246694 P59438
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Top HPS5 Protéines sur anticorps-enligne.fr

Showing 4 out of 4 products:

Catalogue No. Origin Source Conjugué Images Quantité Fournisseur Livraison Prix Détails
Cellules d'insectes Humain His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Connectez-vous pour afficher 70 Days
$13,984.89
Détails
Cellules d'insectes Souris His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Connectez-vous pour afficher 70 Days
$13,984.89
Détails
HEK-293 Cells Humain Myc-DYKDDDDK Tag Validation with Western Blot 20 μg Connectez-vous pour afficher Disponible
$814.00
Détails
Wheat germ Humain GST tag 10 μg Connectez-vous pour afficher 11 to 12 Days
$414.29
Détails

HPS5 Protéines protéines par origine et source

Origin Exprimée danse Conjugué
Human , ,
, ,
Mouse (Murine)

Plus protéines pour Hermansky-Pudlak Syndrome 5 (HPS5) partenaires d'interaction

Human Hermansky-Pudlak Syndrome 5 (HPS5) interaction partners

  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 (Montrer HPS1 Protéines).

  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 (Montrer HPS1 Protéines) documented in the literature.

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

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

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

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

Zebrafish Hermansky-Pudlak Syndrome 5 (HPS5) interaction partners

  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 (Montrer AP3B1 Protéines).

Mouse (Murine) Hermansky-Pudlak Syndrome 5 (HPS5) interaction partners

  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.

Profil protéine HPS5

Profil protéine

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.

Gene names and symbols associated with 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 Protéine
  • Ab1-018 Protéine
  • AI646796 Protéine
  • AIBP63 Protéine
  • AL022647 Protéine
  • C85120 Protéine
  • haze Protéine
  • hz Protéine
  • maroon Protéine
  • mr Protéine
  • ru-2 Protéine
  • ru2 Protéine
  • zgc:162420 Protéine

Protein level used designations for 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 SPECIES
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
Fournisseurs de qualité sélectionnés pour HPS5 Protéines (HPS5)
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