2. Gene
  3. DBT - dihydrolipoamide branched chain transacylase E2 Gene

DBT - dihydrolipoamide branched chain transacylase E2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：二氢硫辛酰胺支链转酰酶 E2

种属: Homo sapiens

同用名: E2; E2B; BCATE2; BCKADE2; BCKAD-E2; BCKDH-E2; BCOADC-E2

基因 ID: 1629 | 基因类型: protein coding

关于 DBT

Cytogenetic location: 1p21.2 Genomic coordinates (GRCh38): 1:100,186,919-100,249,834 (from NCBI)

This gene has 4 transcripts (splice variants), 221 orthologues, 3 paralogues and is associated with 6 phenotypes. Ubiquitous expression in kidney (RPKM 5.8), thyroid (RPKM 4.4) and 25 other tissues.

功能概要

支链α-酮酸脱氢酶复合物 (BCKD) 是一种线粒体内酶复合物，参与支链氨基酸异亮氨酸、亮氨酸和缬氨酸的分解。 BCKD 复合体被认为由 24 个转酰基酶 (E2) 亚基以及相关的脱羧酶 (E1) 、脱氢酶 (E3) 和调节亚基组成。该基因编码转酰基酶 (E2) 亚基。该基因的突变会导致 2 型枫糖尿症。选择性剪接的转录本变体已被描述，但其生物学有效性尚未确定。[RefSeq 提供，2008 年 7 月]

The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial Enzyme complex involved in the breakdown of the branched-chain Amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

DBT 基因产物(3)

mRNA Protein Name
NM_001399969.1 NP_001386898.1 lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 2
NM_001399972.1 NP_001386901.1 lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 2
NM_001918.5 NP_001909.4 lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 1 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
contributes to branched-chain alpha-keto acid dehydrogenase activity IDA
IDA: 通过直接分析推断
3593587 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22291014 GOA
enables ubiquitin protein ligase binding IPI
IPI: 通过物理相互作用推断
19725078 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in branched-chain amino acid catabolic process IDA
IDA: 通过直接分析推断
3593587 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of branched-chain alpha-ketoacid dehydrogenase complex IPI
IPI: 通过物理相互作用推断
3593587 GOA
located in mitochondrial nucleoid IDA
IDA: 通过直接分析推断
18063578 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

DBT 蛋白结构

Biotin_lipoyl

Biotin_lipoyl: Biotin-requiring enzyme (66 - 138)

E3_binding

E3_binding: e3 binding domain (170 - 207)

2-oxoacid_dh

2-oxoacid_dh: 2-oxoacid dehydrogenases acyltransferase (catalytic domain) (250 - 479)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 482 a.a.
蛋白主名 其他名称

lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial

52 kDa mitochondrial autoantigen of primary biliary cirrhosis

重组 DBT 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74207 DBT Protein, Human (sf9, His) P11182 (G62-K482) ≥95%

关联疾病

疾病名称 别名
Maple Syrup Urine Disease

MSUD

Bckd Deficiency

Branched-Chain Ketoaciduria

Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency

Keto Acid Decarboxylase Deficiency

Maple Syrup Urine Disease, Type Ii

Branched Chain Ketoaciduria

Classic Maple Syrup Urine Disease

Intermittent Maple Syrup Urine Disease

Maple Syrup Urine Disease, Type Ia

Ketoacidaemia

Bckdh Deficiency

Branched-Chain 2-Ketoacid Dehydrogenase Deficiency

Thiamine-Responsive Maple Syrup Urine Disease

Intermediate Maple Syrup Urine Disease

Maple Syrup Urine Disease Type 1a

Maple Syrup Urine Disease Type 1b

Maple Syrup Urine Disease Type 2

Maple Syrup Urine Disease, Type Ib

Dihydrolipoamide Dehydrogenase Deficiency

Branched-Chain Ketoacid Dehydrogenase Deficiency

Maple Syrup Disease

Ketoacidemia

Classic Bckd Deficiency

Classic Msud

Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

Classic Branched-Chain Ketoaciduria

Thiamine-Responsive Bckd Deficiency

Thiamine-Responsive Msud

Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

Intermittent Bckd Deficiency

Intermittent Msud

Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency

Maple Syrup Urine Disease 1a

MSUD1A

Maple Syrup Urine Disease Type Ia

Msud Type Ia

Maple Syrup Urine Disease 1b

MSUD1B

Maple Syrup Urine Disease Type Ib

Msud Type Ib

Maple Syrup Urine Disease 2

MSUD2

Maple Syrup Urine Disease Type Ii

Msud Type Ii

Nadh Cytochrome B5 Reductase Deficiency

Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency

Ketonemia

Maple Syrup Urine Disease, Type 1b

Ketoacid Decarboxylase Deficiency

Oxoacid Decarboxylase Deficiency

Branched Chain Ketoacid Dehydrogenase Deficiency

Msud - [Maple-Syrup-Urine Disease]

Ketoaminoacidaemia

Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]

Maple-Syrup-Urine Disorder

Maple-Syrup-Urine Syndrome
Intermediate Maple Syrup Urine Disease

Intermediate Bckd Deficiency

Intermediate Msud

Intermediate Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
Autoimmune Cholangitis

Autoimmune Cholangiopathy
Barth Syndrome

3-Methylglutaconic Aciduria Type 2

BTHS

Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria

Mga Type Ii

Mga2

Mgca2

Mga Type 2

3-Methylglutaconic Aciduria Type Ii

3-Methylglutaconic Aciduria, Type Ii

Mga, Type Ii

3-Methylglutaconicaciduria Type 2

3-Methylglutaconicaciduria Type Ii

Taz Defect

3 Methylglutaconic Aciduria, Type Ii

Dnajc19 Defect

Cardioskeletal Myopathy-Neutropenia Syndrome

X-Linked Cardioskeletal Myopathy And Neutropenia

3-Alpha-Methylglutaconic Aciduria Type 2

Agm2

Cardioskeletal Myopathy-Neutropenia

Invm

Left Ventricular Non-Compaction Isolated X-Linked

Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked

Agammaglobulinemia 2, Autosomal Recessive
Shipyard Eye

Epidemic Keratoconjunctivitis

Ekc
Primary Biliary Cholangitis

Primary Biliary Cirrhosis

Biliary Liver Cirrhosis

Chronic Nonsuppurative Destructive Cholangitis

Familial Primary Biliary Cirrhosis

Pbc

Hanot Syndrome

Cholestatic Cirrhosis

Biliary Cirrhosis Primary

Liver Cirrhosis, Biliary

Hanot'S Cirrhosis

Biliary Cirrhosis

Pericholangiolic Biliary Cirrhosis

Tannhauser-Magendantz Syndrome

Hanot-Rossle Syndrome

Hypertrophic Cirrhosis

Todd Cirrhosis

Hanot Cirrhosis

Charcot Cirrhosis

Mahon-Tannhauser Syndrome

Toxic Cirrhosis

Hypertrophic Biliary Cirrhosis

Monolobular Cirrhosis

Unilobar Cirrhosis

Xanthomatous Biliary Cirrhosis
疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

相关产品

Pre-clinical Phase
生物活性分子 (4)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-109195 Vebicorvir Inhibitor 99.73% 否
HY-B0973 Dibenzothiophene 99.47% 否
HY-156746 DBt-10 Degrader / 否
HY-RS03554 DBT Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris DBT VGNC VGNC:39787
Bos taurus DBT VGNC VGNC:27896
Mus musculus DBT MGD MGI:105386
Rattus norvegicus DBT RGD RGD:68403
Macaca mulatta DBT VGNC VGNC:71744
Felis catus DBT VGNC VGNC:61351
Others DBT NCBI
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