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MGP002964

UniProt Annotations

Entry Information
Gene Namesepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
Protein EntrySPRE_HUMAN
UniProt IDP35270
SpeciesHuman
Comments
Comment typeDescription
Biophysicochemical PropertiesKinetic parameters: KM=14.3 uM for sepiapterin {ECO:0000269|PubMed:11825621}; KM=10 uM for NADPH {ECO:0000269|PubMed:11825621};
Catalytic ActivityL-erythro-7,8-dihydrobiopterin + NADP(+) = sepiapterin + NADPH.
Catalytic ActivityL-erythro-tetrahydrobiopterin + 2 NADP(+) = 6- pyruvoyl-5,6,7,8-tetrahydropterin + 2 NADPH.
DiseaseDystonia, DOPA-responsive, due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]: A form of DOPA-responsive dystonia. In the majority of cases, patients manifest progressive psychomotor retardation, dystonia and spasticity. Cognitive anomalies are also often present. The disease is due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. {ECO:0000269|PubMed:11443547, ECO:0000269|PubMed:16650784, ECO:0000269|PubMed:17159114}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the final one or two reductions in tetra- hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin.
PtmIn vitro phosphorylation of Ser-213 by CaMK2 does not change kinetic parameters. {ECO:0000269|PubMed:11825621}.
SimilarityBelongs to the sepiapterin reductase family. {ECO:0000305}.
Subcellular LocationCytoplasm.
SubunitHomodimer. {ECO:0000269|Ref.11}.
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