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 (58) 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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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
$10,888.92
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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
$7,639.51
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Wheat germ Human GST tag 10 μg Anmelden zum Anzeigen 11 bis 12 Tage
$414.29
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Escherichia coli (E. coli) Human T7 tag,His tag 100 μg Anmelden zum Anzeigen 15 bis 18 Tage
$650.00
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Escherichia coli (E. coli) Maus T7 tag,His tag 100 μg Anmelden zum Anzeigen 15 bis 18 Tage
$704.00
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Escherichia coli (E. coli) Human Unkonjugiert   5 applications Anmelden zum Anzeigen 1 bis 2 Tage
$318.85
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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. 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.

  2. 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

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

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

  5. 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.

  6. 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.

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

  8. the effects of replacing Arg(64), Glu (zeige DCTN1 Proteine)(78) and Arg(138)residues in human POMT1 and POMT2 (zeige POMT2 Proteine) with Ala on complex formation and enzymatic activity were studied.

  9. the function of the gene products is only known for POMT1, POMT2 (zeige POMT2 Proteine), and POMGnT1 (zeige POMGNT1 Proteine), all responsible for the O-mannosylglycan biosynthesis

  10. the N-glycosylation of POMT1 and POMT2 (zeige POMT2 Proteine) is required for maintaining the conformation as well as the activity of the POMT1-POMT2 (zeige POMT2 Proteine) complex.

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

GENE ID SPEZIES
10585 Homo sapiens
617609 Bos taurus
99011 Mus musculus
84430 Rattus norvegicus
608039 Canis lupus familiaris
100525803 Sus scrofa
Ausgewählte Anbieter für Protein-O-Mannosyltransferase 1 Proteine (POMT1)
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