Aliases for CRPPA Gene
- CDP-L-Ribitol Pyrophosphorylase A 2 3 5
- D-Ribitol-5-Phosphate Cytidylyltransferase 2 3 4
- 2-C-Methyl-D-Erythritol 4-Phosphate Cytidylyltransferase-Like Protein 3 4
- Isoprenoid Synthase Domain Containing 2 3
- Notch1-Induced Protein 2 3
- HISPD 3 4
- ISPD 3 4
- 4-Diphosphocytidyl-2C-Methyl-D-Erythritol Synthase Homolog (Arabidopsis) 2
External Ids for CRPPA Gene
Previous HGNC Symbols for CRPPA Gene
This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
GeneCards Summary for CRPPA Gene
CRPPA (CDP-L-Ribitol Pyrophosphorylase A) is a Protein Coding gene. Diseases associated with CRPPA include Muscular Dystrophy-Dystroglycanopathy , Type C, 7 and Muscular Dystrophy-Dystroglycanopathy , Type A, 7. Among its related pathways are Mannose type O-glycan biosynthesis and Porphyrin and chlorophyll metabolism.
UniProtKB/Swiss-Prot Summary for CRPPA Gene
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 (PubMed:27130732, PubMed:26687144, PubMed:26923585). 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 (PubMed:27130732, PubMed:26687144, PubMed:26923585). 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 (PubMed:26687144). Not Involved in dolichol production (PubMed:26687144).