The protein encoded by this gene is annO-mannosyltransferase that requires interaction with the product ofnthe POMT2 gene for enzymatic function. The encoded protein is foundnin the membrane of the endoplasmic reticulum. Defects in this genenare a cause of Walker-Warburg syndrome (WWS) and limb-girdlenmuscular dystrophy type 2K (LGMD2K). Several transcript variantsnencoding different isoforms have been found for this gene.
应用类型
WB,IHC,FCM
免疫原
This POMT1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 706-735 amino acids from the C-terminal region of human POMT1.