Human UROS Recombinant Protein (RPPB2416)
- SKU:
- RPPB2416
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- P10746
- Research Area:
- Enzymes
Description
| Product Name: | Human UROS Recombinant Protein |
| Product Code: | RPPB2416 |
| Size: | 25µg |
| Species: | Human |
| Target: | UROS |
| Synonyms: | Uroporphyrinogen-III synthase, UROIIIS, UROS, Hydroxymethylbilane hydrolyase [cyclizing], Uroporphyrinogen-III cosynthase. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile filtered colorless solution. |
| Formulation: | UROS protein solution (1mg/ml) containing 20mM Tris-HCl buffer (pH8.0), 10% glycerol and 0.1M NaCl. |
| Stability: | UROS Human Recombinant although stable at 4°C for 1 week, should be stored below -18°C. Please prevent freeze thaw cycles. |
| Purity: | Greater than 95.0% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MKVLLLKDAK EDDCGQDPYI RELGLYGLEA TLIPVLSFEF LSLPSFSEKL SHPEDYGGLI FTSPRAVEAA ELCLEQNNKT EVWERSLKEK WNAKSVYVVG NATASLVSKI GLDTEGETCG NAEKLAEYIC SRESSALPLL FPCGNLKREI LPKALKDKGI AMESITVYQT VAHPGIQGNL NSYYSQQGVP ASITFFSPSG LTYSLKHIQE LSGDNIDQIK FAAIGPTTAR ALAAQGLPVS CTAESPTPQA LATGIRKALQ PHGCC |
Uroporphyrinogen III synthase (UROS) is an enzyme involved in the 4th step of porphyrin metabolism and in the conversion of hydroxymethyl bilane into uroporphyrinogen III. Defects in the UROS protein can cause molecular lesions which lead to the autosomal recessive Gunther disease, otherwise known as congenital erythropoietic porphyria (CEP).
UROS produced in E.Coli is a single, non-glycosylated polypeptide chain containing 285 amino acids (1-265 a.a.) and having a molecular mass of 30.7kDa.UROS is fused to a 20 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
| UniProt Protein Function: | UROS: Catalyzes cyclization of the linear tetrapyrrole, hydroxymethylbilane, to the macrocyclic uroporphyrinogen III, the branch point for the various sub-pathways leading to the wide diversity of porphyrins. Porphyrins act as cofactors for a multitude of enzymes that perform a variety of processes within the cell such as methionine synthesis (vitamin B12) or oxygen transport (heme). Defects in UROS are the cause of congenital erythropoietic porphyria (CEP); also known as Gunther disease. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. The manifestations of CEP are heterogeneous, ranging from nonimmune hydrops fetalis due to severe hemolytic anemia in utero to milder, later onset forms, which have only skin lesions due to cutaneous photosensitivity in adult life. The deficiency in UROS activity results in the non-enzymatic conversion of hydroxymethylbilane (HMB) into the uroporphyrinogen-I isomer. Severe congenital erythropoietic porphyria is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non- immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders. Belongs to the uroporphyrinogen-III synthase family. |
| UniProt Protein Details: | Protein type:EC 4.2.1.75; Mitochondrial; Lyase; Cofactor and Vitamin Metabolism - porphyrin and chlorophyll Chromosomal Location of Human Ortholog: 10q25.2-q26.3 Cellular Component: cytosol; mitochondrion Molecular Function:cofactor binding; uroporphyrinogen-III synthase activity Biological Process: heme biosynthetic process; porphyrin metabolic process; protoporphyrinogen IX biosynthetic process; response to antibiotic; uroporphyrinogen III biosynthetic process Disease: Porphyria, Congenital Erythropoietic |
| NCBI Summary: | The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008] |
| UniProt Code: | P10746 |
| NCBI GenInfo Identifier: | 4557873 |
| NCBI Gene ID: | 7390 |
| NCBI Accession: | NP_000366.1 |
| UniProt Secondary Accession: | P10746,Q9H2T1, B2RC13, D3DRF7, |
| UniProt Related Accession: | P10746 |
| Molecular Weight: | 28,628 Da |
| NCBI Full Name: | uroporphyrinogen-III synthase |
| NCBI Synonym Full Names: | uroporphyrinogen III synthase |
| NCBI Official Symbol: | UROS�� |
| NCBI Official Synonym Symbols: | UROIIIS�� |
| NCBI Protein Information: | uroporphyrinogen-III synthase |
| UniProt Protein Name: | Uroporphyrinogen-III synthase |
| UniProt Synonym Protein Names: | Hydroxymethylbilane hydrolyase [cyclizing]; Uroporphyrinogen-III cosynthase |
| Protein Family: | Uroporphyrinogen-III synthase |
| UniProt Gene Name: | UROS�� |
| UniProt Entry Name: | HEM4_HUMAN |
