Sepiapterin Reductase Recombinant Protein | SPR recombinant protein

Recombinant Human Sepiapterin Reductase

Cat. Num. AAA143691

• Gene Names: SPR; SDR38C1
• Purity: Greater than 95.0% as determined by SDS-PAGE.
• Synonyms: Sepiapterin Reductase; Recombinant Human Sepiapterin Reductase; SPR Human; Sepiapterin Reductase Human Recombinant; SDR38C1; SPR; Dystonia; Sepiapterin reductase; SPR recombinant protein

• Host: E Coli
• Purity/Purification: Greater than 95.0% as determined by SDS-PAGE.
• Form/Format: The SPR solution (1mg/ml) contains 20mM Tris-HCl buffer (pH 8.0) and 10% glycerol.; Sterile filtered colorless solution.
• Sequence: MGSSHHHHHH SSGLVPRGSH MEGGLGRAVC LLTGASRGFG RTLAPLLASL LSPGSVLVLS ARNDEALRQL EAELGAERSG LRVVRVPADL GAEAGLQQLL GALRELPRPK GLQRLLLINN AGSLGDVSKG FVDLSDSTQV NNYWALNLTS MLCLTSSVLK AFPDSPGLNR TVVNISSLCA LQPFKGWALY CAGKAARDML FQVLALEEPN VRVLNYAPGP LDTDMQQLAR ETSVDPDMRK GLQELKAKGK LVDCKVSAQK LLSLLEKDEF KSGAHVDFYD K
• Sequence Length: 261

• Preparation and Storage: Store at 4 degree C if entire vial will be used within 2-4 weeks. Store, frozen at -20 degree C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles.

Related Product Information for SPR recombinant protein

Description: Sepiapterin Reductase produced in E Coli is a single,non-glycosylated polypeptide chain containing 281 amino acids (1-261 a.a.) and having a molecular mass of 30.2 kDa.Sepiapterin Reductase is expressed with a 20 amino acid His tag at N-Terminus and purified by proprietary chromatographic techniques.

Introduction: Sepiapterin Reductase is an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is essential in the biosynthesis of BH4. Mutations in Sepiapterin Reductase gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Sepiapterin reductase is part of the short-chain dehydrogenase/reductase family which reduces exogenous carbonyl compounds as well as phenylpropanedione. Sepiapterin reductase is an important enzyme for the biosynthesis of tetrahydrobiopterin, an necessary cofactor for aromatic amino acid hydrolases together with tyrosine hydroxylase, the rate-limiting enzyme in dopamine synthesis.

Product Categories/Family for SPR recombinant protein

Enzymes; Reductase

NCBI and Uniprot Product Information

• NCBI GI #: 4507185
• NCBI GeneID: 6697
• NCBI Accession #: NP_003115.1
• NCBI GenBank Nucleotide #: NM_003124.4
• UniProt Accession #: P35270; Q53GI9; Q9UBB1; A8K741; D6W5H2
• 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 Symbol: SPR
• NCBI Official Synonym Symbols: SDR38C1
• NCBI Protein Information: sepiapterin reductase; short chain dehydrogenase/reductase family 38C, member 1
• UniProt Protein Name: Sepiapterin reductase
• Protein Family: Sex peptide receptor
• UniProt Gene Name: SPR
• UniProt Synonym Gene Names: SPR
• UniProt Entry Name: SPRE_HUMAN

NCBI Description

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 Description

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: Cofactor and Vitamin Metabolism - folate biosynthesis; EC 1.1.1.153; Oxidoreductase

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: L-phenylalanine metabolic process; tetrahydrobiopterin biosynthetic process; voluntary musculoskeletal movement; death; pteridine metabolic process; neuron morphogenesis during differentiation; regulation of multicellular organism growth; regulation of nitric-oxide synthase activity; nitric oxide biosynthetic process; norepinephrine metabolic process; dopamine metabolic process; nitric oxide metabolic process; serotonin metabolic process

Disease: Dystonia, Dopa-responsive, Due To Sepiapterin Reductase Deficiency