Aliases for ISPD Gene
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 autosomal recessive limb-girdle muscular dystrophy due to ispd deficiency and ispd-related muscle diseases. 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.