NP_003115.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
28,048 Da
NCBI Official Full Name
sepiapterin reductase
NCBI Official Synonym Full Names
sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
NCBI Official Synonym Symbols
NCBI Protein Information
sepiapterin reductase
UniProt Protein Name
Sepiapterin reductase
UniProt Synonym Gene Names
UniProt Entry Name
SPRE_HUMAN
NCBI Summary for SPR
This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]
UniProt Comments for SPR
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.
Protein type: Oxidoreductase; Cofactor and Vitamin Metabolism - folate biosynthesis; EC 1.1.1.153
Chromosomal Location of Human Ortholog: 2p14-p12
Cellular Component: nucleoplasm; mitochondrion; cytoplasm; cytosol
Molecular Function: aldo-keto reductase activity; sepiapterin reductase activity; NADP binding
Biological Process: voluntary musculoskeletal movement; tetrahydrobiopterin biosynthetic process; death; pteridine metabolic process; regulation of multicellular organism growth; norepinephrine metabolic process; nitric oxide metabolic process; dopamine metabolic process; L-phenylalanine metabolic process; neuron morphogenesis during differentiation; regulation of nitric-oxide synthase activity; nitric oxide biosynthetic process; serotonin metabolic process
Disease: Dystonia, Dopa-responsive, Due To Sepiapterin Reductase Deficiency
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Products associated with SPR elisa kit
Pathways associated with SPR elisa kit
Diseases associated with SPR elisa kit
Organs/Tissues associated with SPR elisa kit
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