GCDH Antibody, Biotin conjugated

說明書

中文名稱：

GCDH兔多克隆抗體, Biotin偶聯
貨號：

CSB-PA849798LD01HU
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) GCDH Polyclonal antibody
Uniprot No.：

Q92947
基因名：

GCDH
別名：

ACAD5 antibody; EC 1.3.99.7 antibody; GCD antibody; Gcdh antibody; GCDH_HUMAN antibody; Glutaryl CoA dehydrogenase antibody; Glutaryl CoA dehydrogenase; mitochondrial antibody; Glutaryl Coenzyme A dehydrogenase antibody; Glutaryl-CoA dehydrogenase antibody; mitochondrial antibody; MS781 antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Glutaryl-CoA dehydrogenase, mitochondrial protein (45-300AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

Biotin
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
應用范圍：

ELISA
Protocols：

ELISA Protocol
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

功能：

Catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. Isoform Short is inactive.
基因功能參考文獻：
1. Molecular genetics analysis identified 14 different mutations in the GCDH gene in the 18 patients with Glutaric acidemia I PMID: 28389991
2. Four mutations of the glutaryl-CoA dehydrogenase (GCDH) gene were identified among the patients with diagnosis of glutaric acidemia type I (GA-I). PMID: 29419857
3. We report the allele frequencies for three known Glutaric aciduria type I low excretors GCDH variants (M405V, V400M and R227P) and note that both the M405V and V400M variants are significantly more common in the population of African ancestry compared to the general population PMID: 27397597
4. Our data underscore the impact of GCDH protein interactions mediated by amino acid residues on the surface of GCDH required for proper enzymatic activity PMID: 28062662
5. Mutations in GCDH gene observed in the present study indicate genetic heterogeneity in GCDH gene among South Indian population. No definite genotype-phenotype correlations were observed. PMID: 26071121
6. 2 novel mutations, p.Glu64Asp and p.Gly268Val, account for majority of disease alleles in Cypriot patients with Glutaric aciduria type I; a founder effect for the p.Glu64Asp and the p.Gly268Val can be suggested based on place of origin of mutation carriers PMID: 24973495
7. Point mutation of GCDH gene is associated with glutaric academia type I. PMID: 25863083
8. 29 GCDH mutations were identified in 23 glutaric aciduria type 1 patients, including 11 novel mutations PMID: 24332224
9. Data indicate a homozygous c.1244-2A> C mutation of the glutaryl-CoA dehydrogenase (GCDH) gene in both patients. PMID: 25297592
10. These cells displayed decreased levels of GCDH tetramer. PMID: 22231382
11. Identification of GCDH gene mutations in four patients with glutaric academia type I. PMID: 23225040
12. A homozygous, disease-segregating mutation (p.Val400Met) was identified in the glutaryl-CoA dehydrogenase (GCDH) gene at chromosome 19p13. PMID: 21912879
13. physiological concentrations of flavin adenine dinucleotide resulted in a spectacular enhancement of the thermal stabilities of GCDH and prevented enzymatic activity loss PMID: 21968293
14. GCDH gene mutations are identified in 8 patients with glutaric aciduria type I PMID: 21811973
15. 12 glutaric aciduria type 1 patients were found homozygous for the same A293T mutation in the glutaryl-CoA dehydrogenase (GCDH) gene. PMID: 20732827
16. mutational analysis of glutaryl-CoA dehydrogenase in two patients with glutaric aciduria type 1. PMID: 20514322
17. Cerebral toxicity caused by GCDH deficiency may induce a state of arteriolar dilation and increased cerebral blood volume. PMID: 20032085
18. Three-dimensional structures of human GCD in uncomplexed form and in complex with 4-nitrobutyryl-CoA are reported, and the structural bases for the mechanisms of the dehydrogenation and decarboxylation reactions are proposed. PMID: 15274622
19. The authors report two GCDH-deficient patients with macrocephaly presenting with progressive neurologic deterioration and a severe leukoencephalopathy during adolescence or adulthood. PMID: 15985591
20. An autosomal recessive disease thsat leads to an accumulation of glutaric and 3-hydroxyglutaric acids and secondary carnitine deficiency, (review) PMID: 16368216
21. The major rate-determining step in the steady-state turnover of glutaryl-CoA dehydrogenase (GCD) occurs at the release of crotonyl-CoA product; the chemical steps and reoxidation of reduced FAD are much faster than the turnover of wild-type GCD. PMID: 17176108
22. GA I is caused by mutations in the GCDH gene, encoding glutaryl-CoA dehydrogenase. PMID: 17661081
23. Expression studies of four missense mutations in GCDH indicate that both enzyme instability and impaired enzyme function can underlie the autosomal recessive neurometabolic disorder glutaric aciduria type I. PMID: 18775954
24. In the oxidative decarboxylation of glutaryl-coenzyme A (CoA) that is catalyzed by glutaryl-CoA dehydrogenase, glutaconyl-CoA is the presumed enzyme-bound intermediate. PMID: 11705404
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相關疾?。?/div>
Glutaric aciduria 1 (GA1)
亞細胞定位：

Mitochondrion matrix.
蛋白家族：

Acyl-CoA dehydrogenase family
組織特異性：

Isoform Long and isoform Short are expressed in fibroblasts and liver.
數據庫鏈接：

HGNC: 4189

OMIM: 231670

KEGG: hsa:2639

STRING: 9606.ENSP00000222214

UniGene: Hs.532699

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