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: 6 C3|6 37.15 cM
Cellular Component:  cytoplasm; cytosol; nucleoplasm
Molecular Function:  oxidoreductase activity; protein homodimerization activity; sepiapterin reductase activity
Biological Process:  cell morphogenesis involved in neuron differentiation; dopamine metabolic process; L-phenylalanine metabolic process; nitric oxide biosynthetic process; norepinephrine metabolic process; oxidation-reduction process; pteridine metabolic process; regulation of multicellular organism growth; response to organic substance; serotonin metabolic process; tetrahydrobiopterin biosynthetic process; tetrahydrobiopterin metabolic process; voluntary musculoskeletal movement
Reference #:  Q64105 (UniProtKB)
Alt. Names/Synonyms: AA409688; ENSMUSG00000071345; Gm10328; Sepiapterin reductase; SPR; SPRE
Gene Symbols: Spr
Molecular weight: 27,883 Da
Basal Isoelectric point: 5.59  Predict pI for various phosphorylation states
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Protein Structure Not Found.

Cross-references to other databases:  STRING  |  Reactome  |  BioGPS  |  Pfam  |  RCSB PDB  |  ENZYME  |  Phospho3D  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene