Recombinant Human 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein (ISPD)

Uniprot Id

A4D126

Target Species

Human

Target Name

CRPPA

Target Full Name

D-ribitol-5-phosphate cytidylyltransferase

Target Function

Cytidylyltransferase required for protein O-linked mannosylation. Catalyzes the formation of CDP-ribitol nucleotide sugar from D-ribitol 5-phosphate. CDP-ribitol is a substrate of FKTN during the biosynthesis 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), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Shows activity toward other pentose phosphate sugars and mediates formation of CDP-ribulose or CDP-ribose using CTP and ribulose-5-phosphate or ribose-5-phosphate, respectively. Not Involved in dolichol production.

Target Involvement

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7); Muscular dystrophy-dystroglycanopathy limb-girdle C7 (MDDGC7)

Target Subcellular Location

Cytoplasm, cytosol.

Target Protein Families

IspD/TarI cytidylyltransferase family, IspD subfamily

Target Tissue Specificity

Ubiquitously expressed, with high expression in brain.

Target Synonyms

2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein; Isoprenoid synthase domain-containing protein; ispD; ISPD_HUMAN