Aliases for FKRP Gene
External Ids for FKRP Gene
Previous GeneCards Identifiers for FKRP Gene
This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, cognitive disability, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008]
GeneCards Summary for FKRP Gene
FKRP (Fukutin Related Protein) is a Protein Coding gene. Diseases associated with FKRP include Muscular Dystrophy-Dystroglycanopathy , Type C, 5 and Muscular Dystrophy-Dystroglycanopathy , Type B, 5. Among its related pathways are Metabolism and Mannose type O-glycan biosynthesis. Gene Ontology (GO) annotations related to this gene include transferase activity.
UniProtKB/Swiss-Prot Summary for FKRP Gene
Catalyzes the transfer of CDP-ribitol to ribitol 5-phosphate previously attached by FKTN/fukutin of to 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:25279699, PubMed:26923585, PubMed:29477842). This constitutes the second step in the formation of the ribose 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:25279699, PubMed:26923585, PubMed:29477842).