Recombinant Human UROS protein (ab107136)
Key features and details
- Expression system: Escherichia coli
- Purity: > 95% SDS-PAGE
- Tags: His tag N-Terminus
- Suitable for: MS, SDS-PAGE
Description
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Product name
Recombinant Human UROS protein -
Purity
> 95 % SDS-PAGE.
ab107136 is purified using conventional chromatography techniques. -
Expression system
Escherichia coli -
Accession
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Protein length
Full length protein -
Animal free
No -
Nature
Recombinant -
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Species
Human -
Sequence
MGSSHHHHHHSSGLVPRGSHMKVLLLKDAKEDDCGQDPYIRELGLYGLEA TLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKT EVWERSLKEKWNAKSVYVVGNATASLVSKIGLDTEGETCGNAEKLAEYIC SRESSALPLLFPCGNLKREILPKALKDKGIAMESITVYQTVAHPGIQGNL NSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKFAAIGPTTAR ALAAQGLPVSCTAESPTPQALATGIRKALQPHGCC -
Predicted molecular weight
31 kDa including tags -
Amino acids
1 to 265 -
Tags
His tag N-Terminus
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Associated products
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Related Products
Specifications
Our Abpromise guarantee covers the use of ab107136 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
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Applications
Mass Spectrometry
SDS-PAGE
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Mass spectrometry
MALDI-TOF -
Form
Liquid -
Concentration information loading...
Preparation and Storage
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Stability and Storage
Shipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle.
pH: 8.00
Constituents: 0.316% Tris HCl, 10% Glycerol (glycerin, glycerine), 0.58% Sodium chloride
General Info
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Alternative names
- congenital erythropoietic porphyria
- HEM4_HUMAN
- Hydroxymethylbilane hydrolyase
see all -
Function
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). -
Tissue specificity
Ubiquitous. -
Pathway
Porphyrin metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 3/4. -
Involvement in disease
Defects in UROS are the cause of congenital erythropoietic porphyria (CEP) [MIM:263700]; 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.
Note=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. -
Sequence similarities
Belongs to the uroporphyrinogen-III synthase family. - Information by UniProt
Protocols
To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.
Datasheets and documents
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SDS download
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Datasheet download
References (0)
ab107136 has not yet been referenced specifically in any publications.