DISEASES

Disease-gene associations mined from literature

Literature associating CRPPA and autosomal recessive limb-girdle muscular dystrophy type 2U

CRPPA [ENSP00000385478]

D-ribitol-5-phosphate cytidylyltransferase; Cytidylyltransferase required for protein O-linked mannosylation (PubMed:22522420, PubMed:27130732, PubMed:27601598, PubMed:26687144, PubMed:22522421, PubMed:26923585). 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 . ECO:0000269|PubMed:26687144, ECO:0000269|PubMed:26923585,

Synonyms:  CRPPA,  A0A140VJM1,  A4D126,  A4D126p,  hA4D126 ...

Linkouts:  STRING  Pharos  UniProt  OMIM