Neuromuscular HOMEepAGE
neuromuscular.wustl.edu
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A–Z

ISPD

Adult-onset

CDP-L-ribitol pyrophosphorylase A

7p21.2
Also known as: ISPD, LGMDR20, MDDGA7, MDDGC7, Nip, hISPD
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View full entry on WUSTL Neuromuscular
musdist/dag2.htm#ispd

Gene Summary

RefSeq / NCBI

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]

External Resources

WUSTL Neuromuscular
Washington University Disease Center
ClinGen
Clinical Genome Resource
G2P
Gene-to-Phenotype (EBI)
GeneReviews
NCBI Expert-Authored Reviews
NCBI Gene
National Center for Biotechnology Information
PubMed
Biomedical Literature
UniProt
Universal Protein Resource
DECIPHER
DatabasE of genomiC varIation and Phenotype in Humans

Gene data compiled from the Washington University Neuromuscular Disease Center, NCBI Gene, and OMIM. For clinical use, always refer to primary sources.