Rabbit anti-Human POMT1 Polyclonal Antibody

Uniprot Id

Q9Y6A1

Target Species

Human

Target Name

POMT1

Target Full Name

Protein O-mannosyl-transferase 1

Target Function

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. Essentially dedicated to O-mannosylation of alpha-DAG1 and few other proteins but not of cadherins and protocaherins.

Target Involvement

Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1); Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1); Muscular dystrophy-dystroglycanopathy limb-girdle C1 (MDDGC1)

Target Subcellular Location

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Target Protein Families

Glycosyltransferase 39 family

Target Tissue Specificity

Widely expressed. Highly expressed in testis, heart and pancreas. Detected at lower levels in kidney, skeletal muscle, brain, placenta, lung and liver.

Target Synonyms

RT; LGMD2K; MDDGA1; MDDGB1; MDDGC1; LGMDR11; POMT1

Target Background

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.