Aliases for ISPD Gene
- Isoprenoid Synthase Domain Containing 2 3 5
- 2-C-Methyl-D-Erythritol 4-Phosphate Cytidylyltransferase-Like Protein 3 4
- Isoprenoid Synthase Domain-Containing Protein 3 4
- Notch1-Induced Protein 2 3
- HISPD 3 4
- 4-Diphosphocytidyl-2C-Methyl-D-Erythritol Synthase Homolog (Arabidopsis) 2
- 4-Diphosphocytidyl-2C-Methyl-D-Erythritol Synthase Homolog 3
- D-Ribitol-5-Phosphate Cytidylyltransferase 3
External Ids for ISPD Gene
Previous GeneCards Identifiers for ISPD 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 ISPD Gene
ISPD (Isoprenoid Synthase Domain Containing) is a Protein Coding gene. Diseases associated with ISPD 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 Metabolism. Gene Ontology (GO) annotations related to this gene include nucleotidyltransferase activity and 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase activity.
UniProtKB/Swiss-Prot for ISPD Gene
Cytidylyltransferase required for protein O-linked mannosylation (PubMed:26687144, PubMed:27130732, PubMed:27601598, PubMed:22522420, PubMed:22522421). Catalyzes the formation of CDP-ribitol nucleotide sugar from D-ribitol 5-phosphate (PubMed:26687144, PubMed:27130732). 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:26687144, PubMed:27130732). 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).