Product Details

Purity

Greater than 90% as determined by SDS-PAGE.

Target Names

L2HGDH

Uniprot No.

Q9H9P8

Research Area

Cell Biology

Alternative Names

2 hydroxyglutarate dehydrogenase; Alpha hydroxyglutarate oxidoreductase; Alpha ketoglutarate reductase; C14orf160; Duranin; FLJ12618; L alpha hydroxyglutarate dehydrogenase; L-2-hydroxyglutarate dehydrogenase; L-2-hydroxyglutarate dehydrogenase, mitochondrial; L2HDH_HUMAN; l2hgdh; mitochondrial

Species

Homo sapiens (Human)

Source

E.coli

Expression Region

52-463aa

Target Protein Sequence

VIVGGGIVGLASARALILRHPSLSIGVLEKEKDLAVHQTGHNSGVIHSGIYYKPESLKAKLCVQGAALLYEYCQQKGISYKQCGKLIVAVEQEEIPRLQALYEKGLQNGVPGLRLIQQEDIKKKEPYCRGLMAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLYSDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFDFSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFDAGVGDIGNRILHVRNAPSPAATSSIAISGMIADEVQQRFEL
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.

Mol. Weight

61.3kDa

Protein Length

Full Length of Mature Protein

Tag Info

N-terminal 6xHis-SUMO-tagged

Form

Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.

Buffer

Tris-based buffer,50% glycerol

Reconstitution

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Troubleshooting and FAQs

Protein FAQs

Storage Condition

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.

Shelf Life

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.

Lead Time

3-7 business days

Notes

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Datasheet & COA

Please contact us to get it.

Target Background

Gene References into Functions

In this study, we describe a large pedigree from Pakistan showing multiple neurological symptoms. Homozygosity mapping and Sanger sequencing revealed a novel missense mutation in L2HGDH gene. PMID: 29458334
The mutations of the L2HGDH gene as the causes of L-2-hydroxyglutaric aciduria. PMID: 29980873
c.845G>A (p.R282Q) in the exon 7 of the L2HGDH gene is associated with 2-hydroxyglutaric aciduria in Chinese family. PMID: 26829733
Intragenic single nucleotide length polymorphisms and two extragenic microsatellites flanking the L2HGDH gene confirm the founder effect of c.241A>G mutation in the 14 studied cases. PMID: 24573090
modest increases in intracellular 2-HG in acute myeloid leukaemia cells, as seen with the rs11554137 SNP, might enhance chemoresistance, or promote acquisition of leukaemia-iniating mutations PMID: 24606602
Report ten novel mutations in the L2HGDH gene in patients with L-2-hydroxyglutaric aciduria from different ethnic backgrounds. PMID: 18415700
Report three unrelated Tunisian families containing seven patients with L2HGA mutations and inter-familial phenotype variability. PMID: 18780161
L2HGDH mutation is not associated with glioblastoma. PMID: 21625441
We did not find evidence for mutations in the genes D2HGDH and L2HGDH as an alternative mechanism for raised 2-hydroxyglutarate levels in brain tumours PMID: 20727073
Exonic mutations in the L2HGDH gene in Staffordshire bull terriers have been identified and associated with epilepsy. PMID: 20852250
analysis of genetic heterogeneity in D-2-hydroxyglutaric aciduria PMID: 20020533
The phenotype, including neurological manifestations and urinary levels of alpha-hydroxyglutarate, is reported and the phenotype-genotype relationship, is evaluated. PMID: 20052767
we present three novel mutations (Gln197X, Gly211Val and c.540+1 G>A), which increase the present deleterious collection of L2HGDH gene up to 35 mutationsthat we have compiled in this study. PMID: 19911013
encodes a putative mitochondrial protein with homology to FAD-dependent oxidoreductases; a mutant gene is accociated with L-2-hydroxyglutaric aciduria.propose to name the gene duranin PMID: 15385440
data indicate that l-2-hydroxyglutaric aciduria is due to a deficiency in l-2-hydroxyglutarate dehydrogenase PMID: 16005139
Indicate that 2-ketoglutaric acid is the metabolic precursor of L-2-hydrosyglutaric acid in L-2-hydroxyglutaric acid aciduria. PMID: 17876720
We successfully treated an adult patient with L-2-hydroxyglutaric aciduria using FAD and levocarnitine. PMID: 18362286
Data show that L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene in exon 3 (c.292C-->T) and in exon 7 (c.887T-->A). PMID: 18671189

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Involvement in disease

L-2-hydroxyglutaric aciduria (L2HGA)

Subcellular Location

Mitochondrion.

Protein Families

L2HGDH family

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.

Database Links

HGNC: 20499

OMIM: 236792

KEGG: hsa:79944

STRING: 9606.ENSP00000267436

UniGene: Hs.256034

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Code	CSB-EP864008HU
MSDS	MSDS
Size	$224
	Order now
Image	(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel. Based on the SEQUEST from database of E.coli host and target protein, the LC-MS/MS Analysis result of CSB-EP864008HU could indicate that this peptide derived from E.coli-expressed Homo sapiens (Human) L2HGDH. Based on the SEQUEST from database of E.coli host and target protein, the LC-MS/MS Analysis result of CSB-EP864008HU could indicate that this peptide derived from E.coli-expressed Homo sapiens (Human) L2HGDH.
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Recombinant Human L-2-hydroxyglutarate dehydrogenase, mitochondrial (L2HGDH)

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