PRINS
Chr 10ARADpsoriasis associated non-protein coding RNA induced by stress
Also known as: NCRNA00074
PRINS encodes an enzyme involved in purine nucleotide metabolism that is essential for maintaining adequate ATP levels in red blood cells. Mutations cause congenital nonspherocytic hemolytic anemia type 7, which presents as chronic hemolysis due to red blood cell enzyme deficiency, and may also contribute to myocardial infarction susceptibility. The condition follows autosomal recessive inheritance for the anemia phenotype, though some variants may show autosomal dominant effects.
Primary Disease Associations & Inheritance
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/PRINS?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
14 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 9 |
Likely Pathogenic | — | — | — | — | 1 |
VUS | — | — | — | — | 1 |
Likely Benign | — | — | — | — | 1 |
Benign | — | — | — | — | 1 |
| Total | — | 13 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PRINS · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools