CRPPA CDP-L-ribitol pyrophosphorylase A
Gene ID: 729920, updated on 2-Nov-2024Gene type: protein coding
Also known as: Nip; ISPD; hISPD; MDDGA7; MDDGC7; LGMDR20
- See all available tests in GTR for this gene
- Go to complete Gene record for CRPPA
- Go to Variation Viewer for CRPPA variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal recessive limb-girdle muscular dystrophy type 2U | not available |
| Impact of four loci on serum tamsulosin hydrochloride concentration. GeneReviews: Not available | |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | not available |
Genomic context
- Location:
- 7p21.2
- Sequence:
- Chromosome: 7; NC_000007.14 (16087525..16421538, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CRPPA variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- ISPD homepage - Leiden Muscular Dystrophy pages
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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