abnormal biopterin level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the concentration of this pterin found in yeast, the fruit fly and in normal human urine, the reduced form of which acts as a coenzyme for many enzymatic reactions (Mammalian Phenotype Ontology, MP_0005320)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005320
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2 gene mutations causing the abnormal biopterin level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
PTS 6-pyruvoyltetrahydropterin synthase
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)