Product Name
L2HGDH, Polyclonal Antibody
Full Product Name
L2HGDH, ID (L2HGDH, C14orf160, L-2-hydroxyglutarate dehydrogenase, mitochondrial, Duranin)
Product Synonym Names
Anti -L2HGDH, ID (L2HGDH, C14orf160, L-2-hydroxyglutarate dehydrogenase, mitochondrial, Duranin)
Product Gene Name
anti-L2HGDH antibody
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Chromosome Location
Chromosome: 14; NC_000014.8 (50704285..50778947, complement). Location: 14q21.3
3D Structure
ModBase 3D Structure for Q9H9P8
Species Reactivity
Human, Mouse
Purity/Purification
Affinity Purified
Purified by Protein A affinity chromatography.
Form/Format
Supplied as a liquid in PBS, pH 7.2, 0.09% sodium azide.
Immunogen
L2HGDH antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 139-167 amino acids from the Central region of human L2HGDH.
Preparation and Storage
May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
Other Notes
Small volumes of anti-L2HGDH antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Related Product Information for
anti-L2HGDH antibody
This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation.
Product Categories/Family for anti-L2HGDH antibody
Antibodies; Abs to Mitochondrial Proteins
Applications Tested/Suitable for anti-L2HGDH antibody
ELISA (EL/EIA), Western Blot (WB)
Application Notes for anti-L2HGDH antibody
Suitable for use in Western Blot, ELISA
Dilution: ELISA: 1:1,000
Western Blot: 1:100-500
NCBI/Uniprot data below describe general gene information for L2HGDH. It may not necessarily be applicable to this product.
NCBI Accession #
NP_079160.1
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NCBI GenBank Nucleotide #
NM_024884.2
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UniProt Primary Accession #
Q9H9P8
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UniProt Secondary Accession #
Q9BRR1[Other Products]
UniProt Related Accession #
Q9H9P8[Other Products]
Molecular Weight
50,316 Da[Similar Products]
NCBI Official Full Name
L-2-hydroxyglutarate dehydrogenase, mitochondrial
NCBI Official Synonym Full Names
L-2-hydroxyglutarate dehydrogenase
NCBI Official Symbol
L2HGDH [Similar Products]
NCBI Official Synonym Symbols
C14orf160
[Similar Products]
NCBI Protein Information
L-2-hydroxyglutarate dehydrogenase, mitochondrial; duranin; alpha-ketoglutarate reductase; alpha-hydroxyglutarate oxidoreductase; L-alpha-hydroxyglutarate dehydrogenase
UniProt Protein Name
L-2-hydroxyglutarate dehydrogenase, mitochondrial
UniProt Synonym Protein Names
Duranin
UniProt Gene Name
L2HGDH [Similar Products]
UniProt Synonym Gene Names
C14orf160 [Similar Products]
UniProt Entry Name
L2HDH_HUMAN
NCBI Summary for L2HGDH
This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation. [provided by RefSeq, Jul 2008]
UniProt Comments for L2HGDH
Catalytic activity: (S)-2-hydroxyglutarate + acceptor = 2-oxoglutarate + reduced acceptor. Ref.5
Cofactor: FAD. Ref.5
Subcellular location: Mitochondrion Ref.5.
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. Ref.8
Involvement in disease: L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.8 Ref.9
Miscellaneous: Was named 'duranin' in honor of Marinus Duran, who first described L-2-hydroxyglutaric aciduria.
Sequence similarities: Belongs to the L2HGDH family.
Biophysicochemical propertiesKinetic parameters:KM=800 µM for L-2-hydroxyglutarate Ref.5
Research Articles on L2HGDH
1. Report ten novel mutations in the L2HGDH gene in patients with L-2-hydroxyglutaric aciduria from different ethnic backgrounds.
Precautions
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Disclaimer
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