Recombinant Human L2HGDH protein (ab127239)
- Datasheet
- References
- Protocols
Description
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Product name
Recombinant Human L2HGDH protein -
Expression system
Escherichia coli -
Accession
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Protein length
Protein fragment -
Animal free
No -
Nature
Recombinant -
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Species
Human -
Predicted molecular weight
17 kDa -
Amino acids
65 to 216 -
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 ab127239 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
Lyophilised -
Concentration information loading...
Preparation and Storage
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Stability and Storage
Shipped at 4°C. Store at -20ºC.
Constituents: 0.32% Tris HCl, 0.58% Sodium chloride
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ReconstitutionReconstitute with water to desired concentration.
General Info
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Alternative names
- 2 hydroxyglutarate dehydrogenase
- Alpha hydroxyglutarate oxidoreductase
- Alpha ketoglutarate reductase
see all -
Tissue specificity
Widely expressed. Highly expressed in brain, testis and muscle. Expressed to a lower extent in lymphocytes, fibroblasts, keratinocytes, placenta, bladder, small intestine, liver and bone marrow. -
Involvement in disease
Defects in L2HGDH are the cause of L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]. L2HGA is a rare autosomal recessive disorder clinically characterized by mild psychomotor delay in the first years of life, followed by progressive cerebellar ataxia, dysarthria and moderate to severe mental retardation. Diagnosis is based on the presence of an excess of L-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid. -
Sequence similarities
Belongs to the L2HGDH family. -
Cellular localization
Mitochondrion. - Information by UniProt
Datasheets and documents
References
ab127239 has not yet been referenced specifically in any publications.
