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Protein O-mannosyl-transferase

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Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient.

Below are the list of possible Protein O-mannosyl-transferase products. If you cannot find the target and/or product is not available in our catalog, please click here to contact us and request the product or submit your request for custom elisa kit production, custom recombinant protein production or custom antibody production. Custom ELISA Kits, Recombinant Proteins and Antibodies can be designed, manufactured and produced according to the researcher's specifications.
 

Protein O-mannosyl-transferase 1

 Protein O-mannosyl-transferase 1 ELISA Kit
 Protein O-mannosyl-transferase 1 Recombinant
 Protein O-mannosyl-transferase 1 Antibody
Also known as Protein O-mannosyl-transferase 1 (Dolichyl-phosphate-mannose--protein mannosyltransferase 1).
POMT1: Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient. Defects in POMT1 are the cause of muscular dystrophy- dystroglycanopa
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thy congenital with mental retardation type B1 (MDDGB1); also called muscular dystrophy congenital POMT1-related. MDDGB1 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. Defects in POMT1 are the cause of muscular dystrophy- dystroglycanopathy congenital with brain and eye anomalies type A1 (MDDGA1); also known as hydrocephalus-agyria-retinal dysplasia or HARD syndrome. MDDGA1 is an autosomal recessive disorder characterized by cobblestone lissencephaly, hydrocephalus, agyria, retinal displasia, with or without encephalocele. It is often associated with congenital muscular dystrophy and usually lethal within the first few months of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. Defects in POMT1 are the cause of muscular dystrophy- dystroglycanopathy limb-girdle type C1 (MDDGC1); also called autosomal recessive limb-girdle muscular dystrophy with mental retardation. MDDGC1 is a novel form of recessive limb girdle muscular dystrophy with mild mental retardation without any obvious structural brain abnormality, associated with an abnormal alpha-dystroglycan pattern in the muscle. MDDGC1 is a significantly milder allelic form of WWS. Belongs to the glycosyltransferase 39 family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 2.4.1.109; Glycan Metabolism - O-mannosyl glycan biosynthesis; Membrane protein, integral; Membrane protein, multi-pass; Transferase

Chromosomal Location of Human Ortholog: 9q34.1

Cellular Component: endoplasmic reticulum; endoplasmic reticulum membrane

Molecular Function: dolichyl-phosphate-mannose-protein mannosyltransferase activity; mannosyltransferase activity

Biological Process: carbohydrate metabolic process; multicellular organismal development; protein amino acid O-linked glycosylation

Disease: Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 1; Muscular Dystrophy-dystroglycanopathy (congenital With Mental Retardation), Type B, 1; Muscular Dystrophy-dystroglycanopathy (limb-girdle), Type C, 1
 POMT1 ELISA Kit
 POMT1 Recombinant
 POMT1 Antibody
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Protein O-mannosyl-transferase 2

 Protein O-mannosyl-transferase 2 ELISA Kit
 Protein O-mannosyl-transferase 2 Recombinant
 Protein O-mannosyl-transferase 2 Antibody
Also known as Protein O-mannosyl-transferase 2 (Dolichyl-phosphate-mannose--protein mannosyltransferase 2).
POMT2: Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient. Defects in POMT2 are the cause of muscular dystrophy- dystroglycanopa
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thy congenital with brain and eye anomalies type A2 (MDDGA2); also called Walker-Warburg syndrome or muscle-eye-brain disease POMT2-related. MDDGA2 is a autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. Defects in POMT2 are the cause of muscular dystrophy- dystroglycanopathy congenital with mental retardation type B2 (MDDGB2); also called muscular dystrophy congenital POMT2-related. MDDGB2 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities. Defects in POMT2 are the cause of muscular dystrophy- dystroglycanopathy limb-girdle type C2 (MDDGC2); also called limb-girdle muscular dystrophy type 2N (LGMD2N) or muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related (MDGD2C). MDDGC2 is an autosomal recessive muscular dystrophy with onset after ambulation is achieved. MDDGC2 is characterized by increased serum creatine kinase and mild muscle weakness. Muscle biopsy shows dystrophic changes, inflammatory changes, and severely decreased alpha-dystroglycan. Cognition is normal. Belongs to the glycosyltransferase 39 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 2.4.1.109; Endoplasmic reticulum; Glycan Metabolism - O-mannosyl glycan biosynthesis; Membrane protein, integral; Membrane protein, multi-pass; Transferase

Chromosomal Location of Human Ortholog: 14q24

Cellular Component: endoplasmic reticulum membrane

Molecular Function: dolichyl-phosphate-mannose-protein mannosyltransferase activity

Biological Process: protein amino acid glycosylation; protein amino acid O-linked glycosylation

Disease: Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 1; Muscular Dystrophy-dystroglycanopathy (congenital With Brain And Eye Anomalies), Type A, 2; Muscular Dystrophy-dystroglycanopathy (congenital With Mental Retardation), Type B, 2; Muscular Dystrophy-dystroglycanopathy (limb-girdle), Type C, 2
 POMT2 ELISA Kit
 POMT2 Recombinant
 POMT2 Antibody
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