Recombinant Human L-2-hydroxyglutarate dehydrogenase, mitochondrial (L2HGDH)

^{In
Stock}

中文名稱：

人L2HGDH重組蛋白
品名簡稱：

Recombinant Human L2HGDH protein
貨號：

CSB-EP864008HU(F2)
說明書：

MSDS Datasheet
規(guī)格：

￥1344
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

產(chǎn)品詳情
產(chǎn)品評價
相關(guān)產(chǎn)品
靶點詳情

產(chǎn)品詳情

純度：

Greater than 90% as determined by SDS-PAGE.
基因名：

L2HGDH
Uniprot No.：

Q9H9P8
別名：

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
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length of Mature Protein of Isoform 2
來源：

E.coli
分子量：

59.5kDa
表達(dá)區(qū)域：

52-441aa
氨基酸序列

VIVGGGIVGLASARALILRHPSLSIGVLEKEKDLAVHQTGHNSGVIHSGIYYKPESLKAKLCVQGAALLYEYCQQKGISYKQCGKLIVAVEQEEIPRLQALYEKGLQNGVPGLRLIQQEDIKKKEPYCRGLMAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLYSDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFDFSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRQVAVRGPSWLWQQPMKVSDNNIYCFLWRCFALLLTGSTCSFK
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標(biāo)簽：

N-terminal 6xHis-SUMO-tagged
產(chǎn)品提供形式：

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.
緩沖液：

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質(zhì)期：

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.
貨期：

3-7 business days
注意事項：

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.

產(chǎn)品評價

靶點詳情

基因功能參考文獻(xiàn)：
1. 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
2. The mutations of the L2HGDH gene as the causes of L-2-hydroxyglutaric aciduria. PMID: 29980873
3. c.845G>A (p.R282Q) in the exon 7 of the L2HGDH gene is associated with 2-hydroxyglutaric aciduria in Chinese family. PMID: 26829733
4. 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
5. 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
6. Report ten novel mutations in the L2HGDH gene in patients with L-2-hydroxyglutaric aciduria from different ethnic backgrounds. PMID: 18415700
7. Report three unrelated Tunisian families containing seven patients with L2HGA mutations and inter-familial phenotype variability. PMID: 18780161
8. L2HGDH mutation is not associated with glioblastoma. PMID: 21625441
9. 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
10. Exonic mutations in the L2HGDH gene in Staffordshire bull terriers have been identified and associated with epilepsy. PMID: 20852250
11. analysis of genetic heterogeneity in D-2-hydroxyglutaric aciduria PMID: 20020533
12. The phenotype, including neurological manifestations and urinary levels of alpha-hydroxyglutarate, is reported and the phenotype-genotype relationship, is evaluated. PMID: 20052767
13. 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
14. 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
15. data indicate that l-2-hydroxyglutaric aciduria is due to a deficiency in l-2-hydroxyglutarate dehydrogenase PMID: 16005139
16. Indicate that 2-ketoglutaric acid is the metabolic precursor of L-2-hydrosyglutaric acid in L-2-hydroxyglutaric acid aciduria. PMID: 17876720
17. We successfully treated an adult patient with L-2-hydroxyglutaric aciduria using FAD and levocarnitine. PMID: 18362286
18. 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
顯示更多

收起更多
相關(guān)疾病：

L-2-hydroxyglutaric aciduria (L2HGA)
亞細(xì)胞定位：

Mitochondrion.
蛋白家族：

L2HGDH family
組織特異性：

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.
數(shù)據(jù)庫鏈接：

HGNC: 20499

OMIM: 236792

KEGG: hsa:79944

STRING: 9606.ENSP00000267436

UniGene: Hs.256034