| Tissue Specificity | Expressed in the retina (at protein level). Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle. Expressed at similar levels in control fetal and adult brain. Expressed in migrating neurons, including Cajar-Retzius cells and adult cortical neurons, as well as hippocampal pyramidal cells and cerebellar Purkinje cells. No expression observed in the glia limitans, the subpial astrocytes (which contribute to basement membrane formation) or other glial cells. |
| Function | Catalyzes the transfer of a ribitol-phosphate from 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). 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. Required for normal location of POMGNT1 in Golgi membranes, and for normal POMGNT1 activity. May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes. Could be involved in brain development (Probable). |
| Protein Name | Ribitol-5-Phosphate Transferase FktnFukutinFukuyama-Type Congenital Muscular Dystrophy ProteinRibitol-5-Phosphate Transferase |
| Cellular Localisation | Golgi Apparatus MembraneSingle-Pass Type Ii Membrane ProteinCytoplasmNucleusIn Retinal TissueDoes Not Localize With The Golgi Apparatus |
| Alternative Antibody Names | Anti-Ribitol-5-Phosphate Transferase Fktn antibodyAnti-Fukutin antibodyAnti-Fukuyama-Type Congenital Muscular Dystrophy Protein antibodyAnti-Ribitol-5-Phosphate Transferase antibodyAnti-FKTN antibodyAnti-FCMD antibody |
Information sourced from Uniprot.org
