Human PTPS Recombinant Protein (RPPB2229)
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주문- SKU:
- RPPB2229
- Product type:
- Recombinant Protein
- Size:
- 25ug
- Species:
- Human
- Target:
- PTPS
- Synonyms:
- PTP Synthase
- Synonyms:
- 6-Pyruvoyl Tetrahydropterin Synthase
- Synonyms:
- PTPS
- Synonyms:
- PTS
- Source:
- Escherichia Coli
- Uniprot:
- Q03393
Description
| Product Name: | Human PTPS Recombinant Protein |
| Product Code: | RPPB2229 |
| Size: | 25µg |
| Species: | Human |
| Target: | PTPS |
| Synonyms: | PTP Synthase, 6-Pyruvoyl Tetrahydropterin Synthase, PTPS, PTS, FLJ97081. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered colorless solution. |
| Formulation: | 6-PyruvoylTetrahydropterin Synthase is formulated in 20mM Tris-HCl buffer pH-8, 1mM DTT and 20% 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 Analysis by SDS-PAGE. |
| Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MSTEGGGRRC QAQVSRRISF SASHRLYSKF LSDEENLKLF GKCNNPNGHG HNYKVVVTVH GEIDPATGMV MNLADLKKYM EEAIMQPLDH KNLDMDVPYF ADVVSTTENV AVYIWDNLQK VLPVGVLYKV KVYETDNNIV VYKGE |
6-PyruvoylTetrahydropterin Synthase is part of the family of lyases, specifically those carbon-oxygen lyases acting on phosphates. 6-PyruvoylTetrahydropterin Synthase catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, is a necessary cofactor and regulator of a range of enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in 6-PyruvoylTetrahydropterin Synthase gene result in hyperphenylalaninemia.
6-PyruvoylTetrahydropterin Synthase Human Recombinant produced in e.coli is a single, non-glycosylated polypeptide chain containing 165 amino acids (1-145) and having a molecular mass of 18.5kDa. 6-PyruvoylTetrahydropterin Synthase is fused to a 20 amino acid His Tag at N-terminus and purified using conventional chromatography techniques.
| UniProt Protein Function: | PTS: Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6- pyruvoyl tetrahydropterin. Defects in PTS are the cause of BH4-deficient hyperphenylalaninemia type A (HPABH4A); also called 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS deficiency) or hyperphenylalaninemia tetrahydrobiopterin-deficient due to PTS deficiency. HPABH4A is an autosomal recessive disorder characterized by depletion of the neurotransmitters dopamine and serotonin, and clinically by severe neurological symptoms unresponsive to the classic phenylalanine-low diet. Belongs to the PTPS family. |
| UniProt Protein Details: | Protein type:Mitochondrial; Cofactor and Vitamin Metabolism - folate biosynthesis; Lyase; EC 4.2.3.12 Chromosomal Location of Human Ortholog: 11q22.3 Cellular Component: mitochondrion; cytoplasm; cytosol Molecular Function:identical protein binding; protein homodimerization activity; metal ion binding; 6-pyruvoyltetrahydropterin synthase activity Biological Process: amino acid metabolic process; tetrahydrobiopterin biosynthetic process; central nervous system development; regulation of nitric-oxide synthase activity; nitric oxide metabolic process Disease: Hyperphenylalaninemia, Bh4-deficient, A |
| NCBI Summary: | The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008] |
| UniProt Code: | Q03393 |
| NCBI GenInfo Identifier: | 417553 |
| NCBI Gene ID: | 5805 |
| NCBI Accession: | Q03393.1 |
| UniProt Secondary Accession: | Q03393,Q8WVG8, B0YJ87, |
| UniProt Related Accession: | Q03393 |
| Molecular Weight: | 145 |
| NCBI Full Name: | 6-pyruvoyl tetrahydrobiopterin synthase |
| NCBI Synonym Full Names: | 6-pyruvoyltetrahydropterin synthase |
| NCBI Official Symbol: | PTS |
| NCBI Official Synonym Symbols: | PTPS |
| NCBI Protein Information: | 6-pyruvoyl tetrahydrobiopterin synthase; PTP synthase |
| UniProt Protein Name: | 6-pyruvoyl tetrahydrobiopterin synthase |
| Protein Family: | PTS system EIIBC component |
| UniProt Gene Name: | PTS |
| UniProt Entry Name: | PTPS_HUMAN |
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