Human UROS Recombinant Protein (RPPB2416)

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SKU:
RPPB2416
Product type:
Recombinant Protein
Size:
25ug
Species:
Human
Target:
UROS
Synonyms:
Uroporphyrinogen-III synthase
Synonyms:
UROIIIS
Synonyms:
UROS
Synonyms:
Hydroxymethylbilane hydrolyase [cyclizing]
Source:
Escherichia Coli
Uniprot:
P10746
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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
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