Anti-Fukutin FKTN Antibody

Expressed in the retina (at protein level) (PubMed:29416295) . Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle (PubMed:11115853) . Expressed at similar levels in control fetal and adult brain (PubMed:11115853) . Expressed in migrating neurons, including Cajar-Retzius cells and adult cortical neurons, as well as hippocampal pyramidal cells and cerebellar Purkinje cells (PubMed:11115853) . No expression observed in the glia limitans, the subpial astrocytes (which contribute to basement membrane formation) or other glial cells (PubMed:11115853) .

Catalyzes the transfer of CDP-ribitol to the distal N- acetylgalactosamine of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4- (phosphate-6-) mannose), a carbohydrate structure present in alpha- dystroglycan (DAG1) (PubMed:17034757, PubMed:25279699, PubMed:26923585, PubMed:29477842) . This constitutes the first step in the formation of the ribitol 5-phosphate tandem repeat which links the phosphorylated O-mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3- glucuronic acid-beta-1 (PubMed:17034757, PubMed:25279699, PubMed:26923585, PubMed:29477842) . Required for normal location of POMGNT1 in Golgi membranes, and for normal POMGNT1 activity (PubMed:17034757) . May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes (PubMed:25279699) . Could be involved in brain development (Probable) .