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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.
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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.
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
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.
results demonstrate functional and biochemical similarities between POMT1 and its orthologue from bakers' yeast Pmt4.
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.
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.
Three patients with heterozygous POMT1 mutations showed left ventricular (LV) dilation and/or decrease in myocardial contractile force.
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.
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
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.
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
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.
dolichyl-phosphate-mannose--protein mannosyltransferase 1
, dolichyl-phosphate-mannose-protein mannosyltransferase
, protein O-mannosyl-transferase 1
, protein O-mannosyltransferase 1