Recombinant Human Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial (DBT)

中文名稱：

Recombinant Human Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial(DBT)
貨號：

CSB-YP006530HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：

Recombinant Human Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial(DBT)
貨號：

CSB-EP006530HU
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：

Recombinant Human Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial(DBT)
貨號：

CSB-EP006530HU-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 Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial(DBT)
貨號：

CSB-BP006530HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：

Recombinant Human Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial(DBT)
貨號：

CSB-MP006530HU
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：

DBT
Uniprot No.：

P11182
別名：

DBT; BCATE2; Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex; mitochondrial; EC 2.3.1.168; 52 kDa mitochondrial autoantigen of primary biliary cirrhosis; Branched chain 2-oxo-acid dehydrogenase complex component E2; BCOADC-E2; Branched-chain alpha-keto acid dehydrogenase complex component E2; BCKAD-E2; BCKADE2; Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex; Dihydrolipoamide branched chain transacylase; Dihydrolipoyllysine-residue; 2-methylpropanoyl)transferase
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length of Mature Protein
表達區域：

62-482
氨基酸序列

GQVVQFKLS DIGEGIREVT VKEWYVKEGD TVSQFDSICE VQSDKASVTI TSRYDGVIKK LYYNLDDIAY VGKPLVDIET EALKDSEEDV VETPAVSHDE HTHQEIKGRK TLATPAVRRL AMENNIKLSE VVGSGKDGRI LKEDILNYLE KQTGAILPPS PKVEIMPPPP KPKDMTVPIL VSKPPVFTGK DKTEPIKGFQ KAMVKTMSAA LKIPHFGYCD EIDLTELVKL REELKPIAFA RGIKLSFMPF FLKAASLGLL QFPILNASVD ENCQNITYKA SHNIGIAMDT EQGLIVPNVK NVQICSIFDI ATELNRLQKL GSVGQLSTTD LTGGTFTLSN IGSIGGTFAK PVIMPPEVAI GALGSIKAIP RFNQKGEVYK AQIMNVSWSA DHRVIDGATM SRFSNLWKSY LENPAFMLLD LK
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). Within this complex, the catalytic function of this enzyme is to accept, and to transfer to coenzyme A, acyl groups that are generated by the branched-chain alpha-keto acid decarboxylase component.
基因功能參考文獻：
1. 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
2. Deletion in DBT gene is associated with maple syrup urine disease. PMID: 23313820
3. 4 novel mutations in DBT gene resulting in intermittent maple syrup urine disease in 7 Norwegian patients; pathogenic effect of the mutations is depletion of cellular protein; intermittent form of MSUD appears to be due to residual R301C mutant protein PMID: 20570198
4. a distinct subset of antimitochondrial antibodies recognize sequences on branched-chain acyltransferase which located outside of the lipoyl binding domain, in primary biliary cirrhosis and overlap syndrome with autoimmune hepatitis PMID: 14768949
5. presence of the interdomain linker restricts the motional freedom of the hbSBD more significantly than hbLBD, and that the linker region likely exists as a soft rod rather than a flexible string in solution. PMID: 16861235
6. 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
7. 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
8. Examination of the deletion mutation in the E2 (DBT) gene facilitated early MSUD diagnosis and was beneficial for the determination of the proper course of treatment. PMID: 18533943
9. 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
10. two novel type IB MSUD mutations in Israeli patients, which affect the E1beta subunit in the decarboxylase (E1) component of the branched-chain alpha-ketoacid dehydrogenase complex PMID: 11448970
11. Mutation in DBT causes a subset of maple syrup urine disease in Ashkenazi Jewish population. PMID: 11509994
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相關疾病：

Maple syrup urine disease 2 (MSUD2)
亞細胞定位：

Mitochondrion matrix.
蛋白家族：

2-oxoacid dehydrogenase family
數據庫鏈接：

HGNC: 2698

OMIM: 248600

KEGG: hsa:1629

STRING: 9606.ENSP00000359151

UniGene: Hs.709187