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PRINS

Chr 10

psoriasis associated non-protein coding RNA induced by stress

Also known as: NCRNA00074

NCBI Gene: 100169750

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.

GeneReviews ResearchSummary from OMIM

GeneReviews ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism