Recombinant Human 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial (BCKDHA)

中文名稱：

Recombinant Human 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial(BCKDHA)
貨號：

CSB-YP002605HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：

Recombinant Human 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial(BCKDHA)
貨號：

CSB-EP002605HU
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：

Recombinant Human 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial(BCKDHA)
貨號：

CSB-EP002605HU-B
說明書：

MSDS Datasheet
規格：
來源：

E.coli
共軛：

Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
其他：

中文名稱：

Recombinant Human 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial(BCKDHA)
貨號：

CSB-BP002605HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：

Recombinant Human 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial(BCKDHA)
貨號：

CSB-MP002605HU
說明書：

MSDS Datasheet
規格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

>85% (SDS-PAGE)
基因名：

BCKDHA
Uniprot No.：

P12694
別名：

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

Homo sapiens (Human)
蛋白長度：

Full Length of Mature Protein
表達區域：

46-445
氨基酸序列

SSLDD KPQFPGASAE FIDKLEFIQP NVISGIPIYR VMDRQGQIIN PSEDPHLPKE KVLKLYKSMT LLNTMDRILY ESQRQGRISF YMTNYGEEGT HVGSAAALDN TDLVFGQYRE AGVLMYRDYP LELFMAQCYG NISDLGKGRQ MPVHYGCKER HFVTISSPLA TQIPQAVGAA YAAKRANANR VVICYFGEGA ASEGDAHAGF NFAATLECPI IFFCRNNGYA ISTPTSEQYR GDGIAARGPG YGIMSIRVDG NDVFAVYNAT KEARRRAVAE NQPFLIEAMT YRIGHHSTSD DSSAYRSVDE VNYWDKQDHP ISRLRHYLLS QGWWDEEQEK AWRKQSRRKV MEAFEQAERK PKPNPNLLFS DVYQEMPAQL RKQQESLARH LQTYGEHYPL DHFDK
蛋白標簽：

Tag?type?will?be?determined?during?the?manufacturing?process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
產品提供形式：

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.
復溶：

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℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
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：

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
注意事項：

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

Please contact us to get it.

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