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

The protein encoded by POMGNT1 is a type II transmembrane protein that resides in the golgi. Additionally we are shipping Protein O-Linked Mannose Beta1,2-N-Acetylglucosaminyltransferase Antibodies (23) and Protein O-Linked Mannose Beta1,2-N-Acetylglucosaminyltransferase Proteins (7) and many more products for this protein.

list all ELISA KIts Gene Name GeneID UniProt
POMGNT1 68273 Q91X88
POMGNT1 55624 Q8WZA1
POMGNT1 362567 Q5XIN7
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Top Protein O-Linked Mannose Beta1,2-N-Acetylglucosaminyltransferase ELISA Kits at

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Catalog No. Reactivity Sensitivity Range Images Quantity Delivery Price Details
Human 0.094 ng/mL 0.15 ng/mL - 10 ng/mL A typical standard curve 96 Tests 13 to 16 Days
  96 Tests 15 to 18 Days
  96 Tests 15 to 18 Days
  96 Tests 15 to 18 Days

More ELISA Kits for Protein O-Linked Mannose Beta1,2-N-Acetylglucosaminyltransferase Interaction Partners

Mouse (Murine) Protein O-Linked Mannose Beta1,2-N-Acetylglucosaminyltransferase (POMGNT1) interaction partners

  1. Findings suggest that PomGnT1 promotes GBM progression via activation of beta-catenin and may serve as a prognostic factor for glioma patient survival as well as a novel molecular target for anticancer therapy in malignant glioma.

  2. POMGnT1 gene knockout cause basement membrane disruptions in a mouse model of dystroglycanopathy.

  3. Results describe the effect of altered glycosylation of alpha-dystroglycan caused by inactivation of POMGnT1 in the retina.

  4. classical beta1,2-elongation and beta1,6-GlcNAc branching of O-mannose glycan structures are dependent upon the POMGnT1 enzyme and O-mannosylation is not limited solely to alpha-DG in the brain

  5. POMGnT1 knockout mice were viable but with reduced fertility and variable lifespan

  6. The present study provides the first genetic animal model to further dissect the roles of POMGnT1 in MEB disease.

  7. From these findings, we propose that fukutin forms a complex with POMGnT1 and may modulate its enzymatic activity.

  8. POMGnT1(-/-) muscle showed minimal pathological changes with very low-serum creatine kinase levels, and had normally formed muscle basal lamina, but showed reduced muscle mass, reduced numbers of muscle fibers, and impaired muscle regeneration.

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

  1. Genetic testing revealed two known heterozygous mutations in the POMGnT1 gene confirming muscular dystrophy-dystroglycanopathy type A (MDDGA3), one of a group of diseases collectively known as congenital muscular dystrophies, is an alpha-dystroglycanopathy with characteristic brain and ocular abnormalities.

  2. Next-generation sequencing data analysis revealed that all three muscle-eye-brain disease patients had the same novel copy number variations (CNV) g.6668-8257del, which was homozygous in patient 1 and heterozygous in patients 2 and 3.

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

  4. 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.

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

  6. 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.

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

  8. 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

  9. 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).

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

  11. 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.

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

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

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

  15. 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.

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

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

  18. 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.

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

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

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

Antigen Summary

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.

Gene names and symbols associated with POMGNT1

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

Protein level used designations for 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

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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