Recombinant Human ALAS2/ASB protein (ab79941)
Key features and details
- Expression system: Escherichia coli
- Purity: > 90% SDS-PAGE
- Tags: His tag N-Terminus
- Suitable for: SDS-PAGE
Description
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Product name
Recombinant Human ALAS2/ASB protein -
Purity
> 90 % SDS-PAGE. -
Expression system
Escherichia coli -
Protein length
Protein fragment -
Animal free
No -
Nature
Recombinant -
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Species
Human -
Amino acids
136 to 553 -
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 ab79941 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
SDS-PAGE
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Form
Liquid -
Additional notes
This product was previously labelled as ALAS2
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Concentration information loading...
Preparation and Storage
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Stability and Storage
Shipped on Dry Ice. Upon delivery aliquot. Store at -80°C. Avoid freeze / thaw cycle.
pH: 8.00
Constituents: 0.0462% (R*,R*)-1,4-Dimercaptobutan-2,3-diol, 0.395% Tris HCl, 0.05% Tween, 20% Glycerol (glycerin, glycerine), 0.58% Sodium chloride, 0.00053% PLP
General Info
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Alternative names
- 5 @aminolevulinate synthase erythroid specific
- 5 aminolevulinate synthase 2
- 5 aminolevulinate synthase 5 aminolevulinate synthase 2
see all -
Tissue specificity
Erythroid specific. -
Pathway
Porphyrin metabolism; protoporphyrin-IX biosynthesis; 5-aminolevulinate from glycine: step 1/1. -
Involvement in disease
Defects in ALAS2 are a cause of anemia sideroblastic X-linked (XLSA) [MIM:300751]. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. XLSA shows a variable hematologic response to pharmacologic doses of pyridoxine.
Defects in ALAS2 are the cause of erythropoietic protoporphyria X-linked dominant (XLDPT) [MIM:300752]. 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. XLDPT is a form of porphyria characterized biochemically by a high proportion of zinc-protoporphyrin in erythrocytes, in which a mismatch between protoporphyrin production and the heme requirement of differentiating erythroid cells leads to overproduction of protoporphyrin in amounts sufficient to cause photosensitivity and liver disease. Note=Gain of function mutations in ALS2 are responsible for XLDPT, but they can also be a possible aggravating factor in congenital erythropoietic porphyria and other erythropoietic disorders caused by mutations in other genes (PubMed:21309041). -
Sequence similarities
Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family. -
Cellular localization
Mitochondrion matrix. - 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)
ab79941 has not yet been referenced specifically in any publications.