Aliases for ISPD Gene
- Isoprenoid Synthase Domain Containing 2 3 5
- 2-C-Methyl-D-Erythritol 4-Phosphate Cytidylyltransferase-Like Protein 3 4
- Notch1-Induced Protein 2 3
- 4-Diphosphocytidyl-2C-Methyl-D-Erythritol Synthase Homolog (Arabidopsis) 2
- 4-Diphosphocytidyl-2C-Methyl-D-Erythritol Synthase Homolog 3
- Testicular Tissue Protein Li 97 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 A, 7 and Muscular Dystrophy-Dystroglycanopathy , Type C, 7. 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
Required for protein O-linked mannosylation. Probably acts as a nucleotidyltransferase involved in synthesis of a nucleotide sugar. Required for dystroglycan O-mannosylation.