Human SPR Recombinant Protein (RPPB2281)
- SKU:
- RPPB2281
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- P35270
- Research Area:
- Enzymes
Description
| Product Name: | Human SPR Recombinant Protein |
| Product Code: | RPPB2281 |
| Size: | 20µg |
| Species: | Human |
| Target: | SPR |
| Synonyms: | SDR38C1, SPR, Dystonia, Sepiapterin reductase. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile filtered colorless solution. |
| Formulation: | The SPR solution (1mg/ml) contains 20mM Tris-HCl buffer (pH 8.0) and 10% glycerol. |
| Stability: | Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°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. |
| Purity: | Greater than 95.0% as determined by SDS-PAGE. |
| Amino Acid 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 |
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�DOPA synthesis.
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.
| UniProt Protein Function: | 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. |
| UniProt Protein Details: | Protein type:Cofactor and Vitamin Metabolism - folate biosynthesis; EC 1.1.1.153; Oxidoreductase Chromosomal Location of Human Ortholog: 2p13.2 Cellular Component: cytosol; nucleoplasm Molecular Function:aldo-keto reductase activity; NADP binding; sepiapterin reductase activity Biological Process: nitric oxide biosynthetic process; regulation of nitric-oxide synthase activity; tetrahydrobiopterin biosynthetic process Disease: Dystonia, Dopa-responsive, Due To Sepiapterin Reductase Deficiency |
| NCBI Summary: | 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 Code: | P35270 |
| NCBI GenInfo Identifier: | 464801 |
| NCBI Gene ID: | 6697 |
| NCBI Accession: | P35270.1 |
| UniProt Secondary Accession: | P35270,Q53GI9, Q9UBB1, A8K741, D6W5H2, |
| UniProt Related Accession: | P35270 |
| Molecular Weight: | 28kDa |
| NCBI Full Name: | Sepiapterin reductase |
| NCBI Synonym Full Names: | sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) |
| NCBI Official Symbol: | SPR�� |
| NCBI Official Synonym Symbols: | SDR38C1�� |
| NCBI Protein Information: | sepiapterin reductase |
| UniProt Protein Name: | Sepiapterin reductase |
| Protein Family: | Sproutin |
| UniProt Gene Name: | SPR�� |
