Protein O-Mannosyl-Transferase 1 (POMT1) ELISA Kit for Human

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.[provided by RefSeq, Oct 2008]

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

Chromosomal Location of Human Ortholog: 9q34.1

Cellular Component: acrosome; endoplasmic reticulum; endoplasmic reticulum membrane; integral to membrane; sarcoplasmic reticulum

Molecular Function: dolichyl-phosphate-mannose-protein mannosyltransferase activity; mannosyltransferase activity; metal ion binding

Biological Process: carbohydrate metabolic process; cell wall mannoprotein biosynthetic process; extracellular matrix organization and biogenesis; multicellular organismal development; protein amino acid O-linked glycosylation; protein amino acid O-linked mannosylation

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