Protein O-Linked Mannose Beta1,2-N-Acetylglucosaminyltransferase Proteine (POMGNT1)

The protein encoded by POMGNT1 is a type II transmembrane protein that resides in the golgi. Zusätzlich bieten wir Ihnen Protein O-Linked Mannose Beta1,2-N-Acetylglucosaminyltransferase Antikörper (23) und Protein O-Linked Mannose Beta1,2-N-Acetylglucosaminyltransferase Kits (8) und viele weitere Produktgruppen zu diesem Protein an.

alle Proteine anzeigen Gen GeneID UniProt
POMGNT1 68273 Q91X88
POMGNT1 55624 Q8WZA1
Ratte POMGNT1 POMGNT1 362567 Q5XIN7
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Top Protein O-Linked Mannose Beta1,2-N-Acetylglucosaminyltransferase Proteine auf antikoerper-online.de

Showing 6 out of 8 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 60 Days
$9,626.73
Details
Insektenzellen Maus rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.25 mg Anmelden zum Anzeigen 60 bis 65 Tage
$7,506.65
Details
Human Cells Human His tag   50 μg Anmelden zum Anzeigen 4 Days
$522.50
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Wheat germ Human GST tag 10 μg Anmelden zum Anzeigen 11 bis 12 Tage
$414.29
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Human Cells Human His tag   10 μg Anmelden zum Anzeigen 15 bis 16 Tage
$300.00
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HEK-293 Cells Human His tag   10 μg Anmelden zum Anzeigen 8 bis 11 Tage
$297.00
Details

POMGNT1 Proteine nach Spezies und Herkunft

Origin Exprimiert in Konjugat
Mouse (Murine)
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Human , , ,
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Weitere Proteine zu Protein O-Linked Mannose Beta1,2-N-Acetylglucosaminyltransferase (POMGNT1) Interaktionspartnern

Human Protein O-Linked Mannose Beta1,2-N-Acetylglucosaminyltransferase (POMGNT1) Interaktionspartner

  1. These findings demonstrate that PomGnT1 might be a new focus of glioblastoma (GBM)research for treatment of recurrent Temozolomide -resistant GBM

  2. The authors have identified a novel mutation in POMGNT1 that causes nonsyndromic autosomal recessive retinitis pigmentosa, adding to the genetic heterogeneity of this retinal disease.

  3. Study identified recessive POMGNT1 mutations in three unrelated non-syndromic retinitis pigmentosa families showing significant impaired POMGNT1 enzymatic activity.

  4. When association tests were applied to data from the Diabetes Heart Study, it found exome variants of POMGNT1 and JAK1 genes were associated with type 2 diabetes.

  5. POMGNT1 Is Glycosylated by Mucin-Type O-Glycans

  6. study presents clinical, neuroradiological, and POMGNT1 findings in 12 muscle-eye-brain disease patients of Turkish origin from 10 families; suggests a genotype-phenotype correlation

  7. Data indicate that Golgi phosphoprotein 3 (GOLPH3) binds to and controls the Golgi localization of protein O-linked mannose beta-1,2-N-acetlyglucosaminyltransferase 1 (POMGnT1).

  8. Identification of novel POMGnT1 mutations in Chinese patients with muscle-eye-brain disease.

  9. POMGnT1 point mutations and protein expression are associated with variably severe muscle-eye-brain disease showing that severity of the phenotype does not correlate with protein expression.

  10. Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.

  11. This study demonistreated that Intragenic rearrangements in POMGNT1 gene in muscle-eye-brain disease.

  12. these results show that the amino acid sequence affects POMGnT1 activity.

  13. This study gives a comprehensive biochemical evaluation of all clinically relevant POMGnT1 point mutations known to date, which have been linked to muscle-eye-brain disease or similar conditions.

  14. the function of the gene products is only known for POMT1, POMT2, and POMGnT1, all responsible for the O-mannosylglycan biosynthesis

  15. Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the MEB locus, in three Tunisian patients

  16. Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. 13 mutations have been identified in patients with MEB. The mutant POMGnT1s were expressed and none had any activity.

  17. Results describe the identification of a novel O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGnT1) gene missense mutation in muscle-eye-brain disease.

  18. DNA mutational analysis and phenotypes in patients with muscle-eye-brain disease

  19. Our results suggest that PomGnT1, enzymes involved in the O-mannosyl glycosylation pathway, play an active role in modulating integrin and laminin-dependent adhesion and migration of human neuronal cells.

  20. In conclusion, the lymphoblast-based enzymatic assay is a sensitive and useful method (i) to select patients harbouring POMGNT1, POMT1 or POMT2 mutations; (ii) to assess the pathogenicity of new or already described mutations.

Protein O-Linked Mannose Beta1,2-N-Acetylglucosaminyltransferase (POMGNT1) Protein Überblick

Protein Überblick

The protein encoded by this gene is a type II transmembrane protein that resides in the golgi. It participates in O-mannosyl glycosylation, and is specific for alpha linked terminal mannose. Mutations in this gene are associated with muscle-eye-brain (MEB) disease. Alternatively spliced transcript variants have been found for this gene.

Genbezeichner und Symbole assoziert mit POMGNT1

  • protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) (POMGNT1)
  • protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) S homeolog (pomgnt1.S)
  • protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) (pomgnt1)
  • protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase (Pomgnt1)
  • protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) (Pomgnt1)
  • 0610016I07Rik Protein
  • 4930467B06Rik Protein
  • gnT-I.2 Protein
  • GNTI.2 Protein
  • GnT I.2 Protein
  • im:7151461 Protein
  • LGMD2O Protein
  • MDDGA3 Protein
  • MDDGB3 Protein
  • MDDGC3 Protein
  • MEB Protein
  • MGAT1.2 Protein
  • POMGNT1 Protein
  • zgc:158130 Protein

Bezeichner auf Proteinebene für POMGNT1

protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase , O-linked mannose beta1,2-N-acetylglucosaminyltransferase , protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 , O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 , O-mannosyl N-acetylglucosaminyltransferase , UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2

GENE ID SPEZIES
429097 Gallus gallus
456564 Pan troglodytes
482511 Canis lupus familiaris
495292 Xenopus laevis
571876 Danio rerio
707205 Macaca mulatta
100158594 Xenopus (Silurana) tropicalis
100174367 Pongo abelii
100590586 Nomascus leucogenys
68273 Mus musculus
506551 Bos taurus
55624 Homo sapiens
362567 Rattus norvegicus
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