L2HGDH Antibody, FITC conjugated

說明書

中文名稱：

L2HGDH兔多克隆抗體, FITC偶聯
貨號：

CSB-PA864008LC01HU
規格：

￥880
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) L2HGDH Polyclonal antibody
Uniprot No.：

Q9H9P8
基因名：

L2HGDH
別名：

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

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human L-2-hydroxyglutarate dehydrogenase, mitochondrial protein (52-463AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

FITC
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
產品提供形式：

Liquid
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

基因功能參考文獻：
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
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相關疾?。?/div>
L-2-hydroxyglutaric aciduria (L2HGA)
亞細胞定位：

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.
數據庫鏈接：

HGNC: 20499

OMIM: 236792

KEGG: hsa:79944

STRING: 9606.ENSP00000267436

UniGene: Hs.256034

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