Mouse protein-O-mannosyltransferase 2 ELISA Kit | POMT2 elisa kit
Mouse Protein O-mannosyl-transferase 2, POMT2 ELISA Kit
NCBI and Uniprot Product Information
Uniprot Description
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- dystroglycanopathy 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: Membrane protein, multi-pass; Membrane protein, integral; Glycan Metabolism - O-mannosyl glycan biosynthesis; EC 2.4.1.109; Endoplasmic reticulum; Transferase
Cellular Component: membrane; endoplasmic reticulum; integral to membrane
Molecular Function: transferase activity; transferase activity, transferring glycosyl groups; mannosyltransferase activity; dolichyl-phosphate-mannose-protein mannosyltransferase activity
Biological Process: protein amino acid O-linked glycosylation
Research Articles on POMT2
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Product Notes
The Mouse POMT2 pomt2 (Catalog #AAA9322188) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9322188 ELISA Kit recognizes Mouse POMT2. It is sometimes possible for the material contained within the vial of "protein-O-mannosyltransferase 2, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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