CNP 2',3'-cyclic nucleotide 3' phosphodiesterase
Gene ID: 1267, updated on 10-Dec-2024Gene type: protein coding
Also known as: CNP1; HLD20
- See all available tests in GTR for this gene
- Go to complete Gene record for CNP
- Go to Variation Viewer for CNP variants
Summary
Predicted to enable 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity. Involved in substantia nigra development. Located in cytoplasm; extracellular space; and microtubule. Implicated in hypomyelinating leukodystrophy 20; multiple sclerosis; and schizophrenia. Biomarker of alcoholic liver cirrhosis; multiple sclerosis; and restless legs syndrome. [provided by Alliance of Genome Resources, Dec 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Leukodystrophy, hypomyelinating, 20 | See labs |
Genomic context
- Location:
- 17q21.2
- Sequence:
- Chromosome: 17; NC_000017.11 (41966795..41977740)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CNP variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.