Protein-O-Mannosyltransferase 1 Proteine (POMT1)

The protein encoded by POMT1 is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. Zusätzlich bieten wir Ihnen Protein-O-Mannosyltransferase 1 Antikörper (60) und Protein-O-Mannosyltransferase 1 Kits (9) und viele weitere Produktgruppen zu diesem Protein an.

alle Proteine anzeigen Gen GeneID UniProt
POMT1 10585 Q9Y6A1
POMT1 99011 Q8R2R1
Ratte POMT1 POMT1 84430 Q99PR0
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Top Protein-O-Mannosyltransferase 1 Proteine auf

Showing 6 out of 8 products:

Katalog Nr. Origin Quelle Konjugat Bilder Menge Anbieter Lieferzeit Preis Details
Insektenzellen Human rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.5 mg Anmelden zum Anzeigen 60 bis 65 Tage
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
Wheat germ Human GST tag 10 μg Anmelden zum Anzeigen 11 bis 12 Tage
Escherichia coli (E. coli) Human Unkonjugiert SDS-PAGE analysis of Human POMT1 Protein. 100 μg Anmelden zum Anzeigen 11 bis 18 Tage
Escherichia coli (E. coli) Maus Unkonjugiert SDS-PAGE analysis of Mouse POMT1 Protein. 100 μg Anmelden zum Anzeigen 11 bis 18 Tage
Escherichia coli (E. coli) Human Unkonjugiert   5 applications Anmelden zum Anzeigen 1 bis 2 Tage

POMT1 Proteine nach Spezies und Herkunft

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

Weitere Proteine zu Protein-O-Mannosyltransferase 1 (POMT1) Interaktionspartnern

Human Protein-O-Mannosyltransferase 1 (POMT1) Interaktionspartner

  1. In this review, we highlight the present knowledge of the identified disease-associated POMT1 gene mutations and genetic animal models related to the POMT1 gene.

  2. The child was found to carry a heterozygous missense mutation c.1939G>A (p.Ala647Thr) in exon 19 of the protein-O-mannosyltransferase 1 (POMT1) gene inherited from the mother and a heterozygous frameshift mutation c.2141delG (p.Trp714Ter) in exon 20 inherited from the father.

  3. These findings may expand phenotype and mutation spectrum of the POMT1 gene. Clinical diagnosis supplemented with molecular screening may result in more accurate diagnoses of, prognoses for, and improved genetic counselling for this disease

  4. O-mannosylation of cadherins and protocadherins does not require POMT1 and/or POMT2 in contrast to alpha-dystroglycan, and moreover, the O-Man glycans on cadherins are not elongated.

  5. results demonstrate functional and biochemical similarities between POMT1 and its orthologue from bakers' yeast Pmt4.

  6. Our results suggest that POMT activity is inversely proportional to clinical severity, and demonstrate that skin fibroblasts can be used for differential diagnosis of patients with alpha-dystroglycanopathies. We have provided clinical, histological, enzymatic and genetic evidence of POMT1 involvement in five unrelated Chinese patients.

  7. Inhibition of POMT1/2 in human mesencyhmal stem cells , resulted in complete abolishment of chondrogenesis and alterations of adipogenic and osteogenic potential together with a lethal effect during myogenic induction.

  8. report of 2 male siblings and an unrelated female with early onset muscular dystrophy and intellectual disability with minimal structural brain anomalies and no ocular abnormalities; a novel missense mutation (c.1958C>T; p.Pro653Leu) was identified

  9. Three patients with heterozygous POMT1 mutations showed left ventricular (LV) dilation and/or decrease in myocardial contractile force.

  10. the effects of replacing Arg(64), Glu(78) and Arg(138)residues in human POMT1 and POMT2 with Ala on complex formation and enzymatic activity were studied.

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

  12. the N-glycosylation of POMT1 and POMT2 is required for maintaining the conformation as well as the activity of the POMT1-POMT2 complex.

  13. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

  14. Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation.

  15. active enzyme complex of POMT1 and POMT2 suggests that the regulation of protein O-mannosylation is complex and appears to be required for normal structure and function of alpha-dystroglycan in muscle and brain

  16. The authors report on a patient with Walker-Warburg syndrome and a novel POMT1 mutation. The patient expressed alpha-dystroglycan core protein, but fully glycosylated alpha-DG antibody epitopes were absent, associated with loss of laminin-binding activity

  17. Results indicate that mutations in the protein O-mannosyltransferase 1 gene result in a defect of protein O-mannosylation in Walker-Warburg syndrome patients.

  18. the phenotype of glycosylation disorders linked to POMT1 mutations. Furthermore, the A200P mutation is part of a conserved core haplotype, indicating an ancestral founder mutation.

  19. human protein O-mannosyltransferases 1 and 2 form heterocomplexes which possess protein O-mannosyltransferase activity

  20. Several mutations were found in the Protein O-Mannosyltransferase 1 and 2 (POMT1 and POMT2) genes, and one mutation was found in each of the fukutin and fukutin-related protein (FKRP) genes.

Mouse (Murine) Protein-O-Mannosyltransferase 1 (POMT1) Interaktionspartner

  1. during embryogenesis, Pomt1 is expressed in the neural tube, the developing eye, and the mesenchyme; targeted deletion of Pomt1 results in early embryonic lethality due to defects in the assembly of Reichert's membrane

Protein-O-Mannosyltransferase 1 (POMT1) Protein Überblick

Protein Überblick

The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.

Genbezeichner und Symbole assoziert mit POMT1

  • protein O-mannosyltransferase 1 (POMT1)
  • protein-O-mannosyltransferase 1 (Pomt1)
  • AI505244 Protein
  • LGMD2K Protein
  • MDDGA1 Protein
  • MDDGB1 Protein
  • MDDGC1 Protein
  • RT Protein

Bezeichner auf Proteinebene für POMT1

dolichyl-phosphate-mannose--protein mannosyltransferase 1 , dolichyl-phosphate-mannose-protein mannosyltransferase , protein O-mannosyl-transferase 1 , protein O-mannosyltransferase 1

10585 Homo sapiens
617609 Bos taurus
99011 Mus musculus
84430 Rattus norvegicus
608039 Canis lupus familiaris
100525803 Sus scrofa
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