SPR Catalyzes the final one or two reductions in tetra- hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin. Defects in SPR are the cause of dystonia DOPA-responsive due to sepiapterin reductase deficiency (DRDSPRD). 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. Belongs to the sepiapterin reductase family. Note: This description may include information from UniProtKB.
Protein type: Cofactor and Vitamin Metabolism - folate biosynthesis; EC; Oxidoreductase
Chromosomal Location of Human Ortholog: 2p13.2
Cellular Component:  cytosol; nucleoplasm
Molecular Function:  aldo-keto reductase (NADP) activity; NADP binding; sepiapterin reductase activity
Biological Process:  cofactor metabolic process; nitric oxide biosynthetic process; oxidation-reduction process; regulation of nitric-oxide synthase activity; tetrahydrobiopterin biosynthetic process
Disease: Dystonia, Dopa-responsive, Due To Sepiapterin Reductase Deficiency
Reference #:  P35270 (UniProtKB)
Alt. Names/Synonyms: SDR38C1; Sepiapterin reductase; sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase); short chain dehydrogenase/reductase family 38C, member 1; SPR; SPRE
Gene Symbols: SPR
Molecular weight: 28,048 Da
Basal Isoelectric point: 8.25  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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