XB-GENEPAGE-6047578
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pts
???displayGene.name???:
6-pyruvoyltetrahydropterin synthase
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Nomenclature history )
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6-pyruvoyl tetrahydrobiopterin synthase
AI Protein Function
:
pts encodes 6‑pyruvoyl‑tetrahydropterin synthase, an enzyme that catalyzes the conversion of 7,8‑dihydroneopterin triphosphate to 6‑pyruvoyl‑tetrahydropterin in the tetrahydrobiopterin biosynthetic pat...[+]
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Diseases:
Disease Ontology:
BH4-deficient hyperphenylalaninemia A
MIM:
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A
External Links:
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| ???displayGene.expression??? | Development Stages Embryonic Tissues Adult Tissues | |||||||||||
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