Rabbit anti-Human, Mouse L2HGDH Polyclonal Antibody | anti-L2HGDH antibody

L2HGDH Polyclonal Antibody

Cat. Num. AAA9434239

• Gene Names: L2HGDH; C14orf160
• Reactivity: Human, Mouse
• Applications: Western Blot, Immunohistochemistry
• Purity: Affinity purification
• Synonyms: L2HGDH; Polyclonal Antibody; L2HGDH Polyclonal Antibody; C14orf160; L2HGA; L-2-hydroxyglutarate dehydrogenase; anti-L2HGDH antibody

• Host: Rabbit
• Reactivity: Human, Mouse
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Affinity purification
• Form/Format: PBS with 50% glycerol, pH7.4

• Applicable Applications for anti-L2HGDH antibody: Western Blot (WB), Immunohistochemistry (IHC)
• Application Notes: WB: 1:500-1:2000; IHC: 1:50-1:200
• Immunogen: Recombinant fusion protein of human L2HGDH (NP_079160.1).
• Conjugation: Unconjugated
• Preparation and Storage: Store at -20 degree C. Avoid freeze/thaw cycles.

Western Blot (WB)

(Western blot analysis of extracts of various cell lines, using L2HGDH antibody.)

Immunohistochemistry (IHC)

(Immunohistochemistry of paraffin-embedded human stomach using L2HGDH antibody.)

Immunohistochemistry (IHC)

(Immunohistochemistry of paraffin-embedded mouse heart using L2HGDH antibody.)

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

Total protein Ab

NCBI and Uniprot Product Information

• NCBI GI #: 13376331
• NCBI GeneID: 79944
• NCBI Accession #: NP_079160.1
• NCBI GenBank Nucleotide #: NM_024884.2
• UniProt Accession #: Q9H9P8; Q9BRR1
• Molecular Weight: 50,316 Da
• NCBI Official Full Name: L-2-hydroxyglutarate dehydrogenase, mitochondrial
• NCBI Official Synonym Full Names: L-2-hydroxyglutarate dehydrogenase
• NCBI Official Symbol: L2HGDH
• NCBI Official Synonym Symbols: C14orf160
• 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 Gene Name: L2HGDH
• UniProt Synonym Gene Names: C14orf160
• UniProt Entry Name: L2HDH_HUMAN

NCBI Description

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 Description

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