Basic information of CNP :
| Official Symbol of Gene | CNP |
| Species | Homo sapiens |
| Entrez Gene ID | 1267 |
| Official Full Name | 2',3'-cyclic nucleotide 3' phosphodiesterase |
| Also known as | CNP1; HLD20 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000173786 MIM:123830; AllianceGenome:HGNC:2158 |
| Map Location | 17q21.2 |
| Variation Type | Allele |
| refSNP ID | NA |
Sample information of multiple sclerosis:
| Detected Sample | Peripheral blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | NA |
| Population | NA |
| Sample Size | 4306MS |
Literature information of multiple sclerosis :
| Pubmed ID | 9050359 |
| Year | 1996 |
| Title | Analysis of polymorphisms of the 2',3'-cyclic nucleotide-3'-phosphodiesterase gene in patients with multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | While the significance of this is unclear, it would appear unlikely that mutations in the expressed regions of the human CPNase gene contribute to genetic susceptibility to MS in the majority of sufferers. |
| Mechanism/Pathway | The amino acid sequence of CNPase shows a C-terminal motif characteristic of proteins involved in signal transduction pathways, suggesting a key role in myelin function. |
