CNP Chromosome 17
2',3'-cyclic nucleotide 3' phosphodiesterase
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What This Gene Does
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, Jul 2025]
Associated Conditions (5)
Myopia 2
autosomal dominant
Leukodystrophy
hypomyelinating
20
Key Variants
RS1387950081
Pathogenic
Myopia 2, autosomal dominant, Myopia 2
Health Risk
RS1422332023
Pathogenic
Myopia 2, autosomal dominant, Myopia 2
Health Risk
RS199923805
Pathogenic
Myopia 2, autosomal dominant, Myopia 2
Health Risk
RS2050933471
Pathogenic
Leukodystrophy, hypomyelinating, 20
Health Risk
RS2051026773
Pathogenic
Myopia 2, autosomal dominant, Myopia 2
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1387950081 | Health Risk | Pathogenic | Myopia 2, autosomal dominant, Myopia 2 |
| RS1422332023 | Health Risk | Pathogenic | Myopia 2, autosomal dominant, Myopia 2 |
| RS199923805 | Health Risk | Pathogenic | Myopia 2, autosomal dominant, Myopia 2 |
| RS2050933471 | Health Risk | Pathogenic | Leukodystrophy, hypomyelinating, 20 |
| RS2051026773 | Health Risk | Pathogenic | Myopia 2, autosomal dominant, Myopia 2 |