BCKDHA Antibody, FITC conjugated

說明書

中文名稱：

BCKDHA兔多克隆抗體, FITC偶聯
貨號：

CSB-PA002605LC01HU
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) BCKDHA Polyclonal antibody
Uniprot No.：

P12694
基因名：

BCKDHA
別名：

Branched chain alpha keto acid dehydrogenase E1 component alpha polypeptide antibody; FLJ45695 antibody; OVD1A antibody; 2 oxoisovalerate dehydrogenase (lipoamide) antibody; 2 oxoisovalerate dehydrogenase subunit alpha, mitochondrial antibody; 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial antibody; BCKDE1A antibody; BCKDH E1 alpha antibody; BCKDH E1-alpha antibody; BCKDHA antibody; Branched chain alpha keto acid dehydrogenase E1 component alpha chain antibody; Branched chain keto acid dehydrogenase E1 alpha polypeptide antibody; Branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease) antibody; Branched-chain alpha-keto acid dehydrogenase E1 component alpha chain antibody; MSU antibody; MSUD1 antibody; ODBA_HUMAN antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial protein (268-407AA)
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

功能：

The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3).
基因功能參考文獻：
1. pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease PMID: 29673582
2. Data suggest that the following genetic modifications are involved in patients with maple syrup urine disease in Iran: (1) mutation in BCKDHA (branched chain keto acid dehydrogenase E1 alpha); (2) mutation in BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta); (3) mutation in DBT (dihydrolipoamide branched chain transacylase E2; one patient). PMID: 29306928
3. we identified seven novel genetic variants: p.Leu549Pro, p.Glu564*, p.Leu641Pro in MUT, p.Tyr206Cys in PCCB, p.His194Arg, p.Val298Met in BCKDHA and p.Glu286_Met290del in BCKDHB gene. In silico and/or eukaryotic expression studies confirmed pathogenic effect of all novel genetic variants PMID: 26830710
4. Five novel mutations in BCKDHA were identified in MSUD patients. PMID: 26453840
5. The novel DBT mutation c.650-651insT was more prevalent than the deleted 4.7-kb heterozygote in the Amis population. The reported 4.7-kb deletion indicating a possible founder mutation may be preserved. PMID: 24268812
6. Targeted parallel sequencing revealed novel mutations in the gene BCKDHA for prenatal testing of maple syrup urine disease. PMID: 24603436
7. Data from infant/her heterozygous parents (first cousins) suggest homozygous mutation (S144I) in BCKDHA can result in maple syrup urine disease (IA); molecular modeling suggests this missense mutation in exon 4 affects protein stability. [CASE STUDY] PMID: 23729548
8. Case Report: functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene in maple syrup urine disease. PMID: 20431954
9. A list of nine primary candidate genes for T2D and five for obesity were identified in this paper. Two genes, LPL and BCKDHA, were common to these two sets. PMID: 16757574
10. BCKDHA and BCKDHB mutations might be primarily responsible for maple syrup urine disease in the Indian population. PMID: 22593002
11. autism presenting with intellectual disability and epilepsy caused by BCKDK mutations represents a potentially treatable syndrome. PMID: 22956686
12. identified 4 novel mutations of the BCKDHA gene in 3 Korean newborns; to the best of knowledge, this is the first report of maple syrup urine disease confirmed by genetic analysis in Korea PMID: 21844576
13. Case Report: Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination. PMID: 19085071
14. five mutations, three of them novel, responsible for maple syrup urine disease PMID: 19715473
15. the conformational stability underlying the folding of this lipoic acid bearing domain of human mitochondrial branched chain alpha-ketoacid dehydrogenase PMID: 15322287
16. in our cohort more severe enzyme & clinical phenotypes of variant maple syrup urine disease were mainly associated with specific genotypes in BCKDHA gene; milder enzyme & clinical phenotypes were associated with specific genotypes in BCKDHB & DBT genes PMID: 17922217
17. 30 Maple syrup urine disease Portuguese patients studied; 17 putative mutations have been identified (6 in BCKDHA, 5 in BCKDHB and 6 in DBT); 7 of are described for the first time. PMID: 18378174
18. A founder mutation in the BCKDHA is responsible for the high incidence of the maple syrup urine disease among Portuguese Gypsies. PMID: 19456321
19. In 37% (12 patients) of a total of 64 alleles, the supposed maple syrup urine disease-causing mutations in Turkish patients were located in the BCKDHA gene, in 44% (14 patients) in the BCKDHB gene and in 19% (6 patients) in the DBT gene. PMID: 19480318
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相關疾病：

Maple syrup urine disease 1A (MSUD1A)
亞細胞定位：

Mitochondrion matrix.
蛋白家族：

BCKDHA family
數據庫鏈接：

HGNC: 986

OMIM: 248600

KEGG: hsa:593

STRING: 9606.ENSP00000269980

UniGene: Hs.433307

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