Rabbit L2HGDH Polyclonal Antibody | anti-L2HGDH antibody

L2HGDH Rabbit Polyclonal

Cat. Num. AAA7600903

• Gene Names: L2HGDH; L2HGA; C14orf160
• Reactivity: Human, Mouse, Rat
• Applications: ELISA, Western Blot, Immunohistochemistry
• Purity: >=95% as determined by SDS-PAGE; Immunogen Affinity Purified
• Synonyms: L2HGDH; Polyclonal Antibody; L2HGDH Rabbit Polyclonal; anti-L2HGDH antibody

• Host: Rabbit
• Reactivity: Human, Mouse, Rat
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: >=95% as determined by SDS-PAGE; Immunogen Affinity Purified
• Form/Format: Liquid
• Sequence Length: 463

• Applicable Applications for anti-L2HGDH antibody: ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC)
• Immunogen: L-2-hydroxyglutarate dehydrogenase
• Preparation and Storage: PBS with 0.02% sodium azide and 50% glycerol pH 7.3, -20 degree C for 24 months (Avoid repeated freeze / thaw cycles.)

Immunohistochemistry (IHC)

(Immunohistochemistry of paraffin-embedded human stomach using MBS7600903 (L2HGDH Antibody) at dilution of 1:100 heat mediated antigen retrieved with Tris-EDTA buffer (pH9) .)

Western Blot (WB)

(mouse small intestine tissue were subjected to SDS PAGE followed by western blot with MBS7600903 (L2HGDH antibody) at dilution of 1:1000)

NCBI and Uniprot Product Information

• NCBI GI #: 13376331
• NCBI GeneID: 79944
• NCBI Accession #: NP_079160.1
• NCBI GenBank Nucleotide #: NM_024884.2
• Molecular Weight: 48,505 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: L2HGA; C14orf160
• NCBI Protein Information: L-2-hydroxyglutarate dehydrogenase, mitochondrial
• 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

L2HGDH: Defects in L2HGDH are the cause of L-2-hydroxyglutaric aciduria (L2HGA). 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. Belongs to the L2HGDH family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Oxidoreductase; Mitochondrial; Carbohydrate Metabolism - butanoate; EC 1.1.99.2

Chromosomal Location of Human Ortholog: 14q21.3

Cellular Component: integral to membrane; integral to mitochondrial inner membrane; mitochondrial inner membrane; mitochondrion

Molecular Function: 2-hydroxyglutarate dehydrogenase activity

Biological Process: 2-oxoglutarate metabolic process; cellular protein metabolic process

Disease: L-2-hydroxyglutaric Aciduria