The protein encoded by this gene is a putativentransmembrane protein that is localized to the cis-Golgincompartment, where it may be involved in the glycosylation ofnalpha-dystroglycan in skeletal muscle. The encoded protein isnthought to be a glycosyltransferase and could play a role in brainndevelopment. Defects in this gene are a cause of Fukuyama-typencongenital muscular dystrophy (FCMD), Walker-Warburg syndromen(WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilatedncardiomyopathy type 1X (CMD1X). Alternatively spliced transcriptnvariants have been found for this gene.
应用类型
WB,IHC
免疫原
This FKTN antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 177-206 amino acids from the Central region of human FKTN.
