Recombinant Human Fukutin-related protein (FKRP), Truncated

Uniprot Id

Q9H9S5

Target Species

Human

Target Name

FKRP

Target Full Name

Ribitol 5-phosphate transferase FKRP

Target Function

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). 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.

Target Involvement

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5 (MDDGA5); Muscular dystrophy-dystroglycanopathy congenital with or without mental retardation B5 (MDDGB5); Muscular dystrophy-dystroglycanopathy limb-girdle C5 (MDDGC5)

Target Subcellular Location

Golgi apparatus membrane; Single-pass type II membrane protein. Secreted. Cell membrane, sarcolemma. Rough endoplasmic reticulum. Cytoplasm.

Target Protein Families

LicD transferase family

Target Tissue Specificity

Expressed in the retina (at protein level). Expressed predominantly in skeletal muscle, placenta, and heart and relatively weakly in brain, lung, liver, kidney, and pancreas.

Target Synonyms

Fkrp; FKRP_HUMAN; FLJ12576; Fukutin related protein; Fukutin-related protein; LGMD2I; MDC1C; MGC2991

Target Background

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.