BCKDHA - branched chain keto acid dehydrogenase E1 subunit alpha Gene

中文名称：支链酮酸脱氢酶 E1 亚基 α

种属: Homo sapiens

同用名: MSU; MSUD1; OVD1A; BCKDE1A

基因 ID: 593 | 基因类型: protein coding

关于 BCKDHA

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:41,397,818-41,425,002 (from NCBI)

This gene has 8 transcripts (splice variants), 190 orthologues, 2 paralogues and is associated with 6 phenotypes. Ubiquitous expression in heart (RPKM 29.4), kidney (RPKM 27.9) and 25 other tissues.

功能概要

支链α-酮酸 (BCAA) 脱氢酶 (BCKD) 复合物是一种线粒体内酶复合物，可催化支链氨基酸亮氨酸、异亮氨酸和缬氨酸分解代谢的第二个主要步骤。 BCKD 复合物由三个催化组分组成：异四聚体 (alpha2-beta2) 支链 α-酮酸脱羧酶 (E1) 、二氢硫辛酰转酰酶 (E2) 和二氢硫辛酰胺脱氢酶 (E3) 。该基因编码脱羧酶 (E1) 成分的 α 亚基。该基因的突变会导致 IA 型枫糖尿症。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2009 年 9 月]

The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial Enzyme complex that catalyzes the second major step in the catabolism of the branched-chain Amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

BCKDHA 基因产物(2)

mRNA	Protein	Name
NM_000709.4	NP_000700.1	2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 1 precursor
NM_001164783.2	NP_001158255.1	2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform 2 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 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity	IDA IDA: 通过直接分析推断	9582350	GOA
enables 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity	IDA IDA: 通过直接分析推断	7883996	GOA
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	10745006	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
involved in branched-chain amino acid catabolic process	IMP IMP: 通过突变表型推断	9582350	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	IDA IDA: 通过直接分析推断	7883996	GOA
part of branched-chain alpha-ketoacid dehydrogenase complex	IPI IPI: 通过物理相互作用推断	3593587	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

BCKDHA 蛋白结构

E1_dh

0
100
200
300
400
445 a.a.

蛋白主名

其他名称

2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial

2-oxoisovalerate dehydrogenase (lipoamide)

BCKDHA 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	BCKDHA	P12694	BCKDHB	Homo sapiens	P21953	X-Ray Diffraction	15576032
种属内	BCKDHA	P12694	BCKDHB	Homo sapiens	P21953	X-Ray Diffraction	12902323
种属内	BCKDHA	P12694	BCKDHB	Homo sapiens	P21953	X-Ray Diffraction	15166214

种属间: 跨种属相互作用 种属内: 同种属相互作用

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

Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

BCKDKD	Branched-Chain Ketoacid Dehydrogenase Kinase Deficiency
Bckdk Deficiency	Autism-Epilepsy Syndrome Due To Branched Chain Ketoacid Dehydrogenase Kinase Deficiency

Organic Acidemia

Organic Aciduria	Disorder Of Organic Acid Metabolism
Organic Acid Metabolism Disorder	Organic Acidemias
Inherited Organic Acidemia	Organic Acidurias
Aciduria Organic

Epstein-Barr Virus Hepatitis

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors	Inborn Errors Of Amino Acid Metabolism
Disorder Of Amino Acid Metabolism	Amino Acid Metabolism Disorders

Isovaleric Acidemia

Isovaleric Acid Coa Dehydrogenase Deficiency	Isovaleryl-Coa Dehydrogenase Deficiency
IVA	Ivd Deficiency
Acidemia, Isovaleric	Isovaleric Aciduria
Isovaleryl Coa Carboxylase Deficiency	Isovaleric Acid-Coa Dehydrogenase Deficiency

Propionic Acidemia

Ketotic Hyperglycinemia	Propionyl-Coa Carboxylase Deficiency
Pcc Deficiency	Propionicacidemia
Glycinemia, Ketotic	Hyperglycinemia With Ketoacidosis And Leukopenia
Ketotic Glycinemia	Propionic Aciduria
Prop	Acidemia, Propionic
PA-1	Ketotic Ii Glycinemia
Hyperglycinemia, Ketotic	Propionic Acidemia Type I
Propionic Acidemia Type Ii	PA-2
Propionicaciduria

Argininemia

Hyperargininemia	Arginase Deficiency
Arg1 Deficiency	Arginase-1 Deficiency
Deficiency Of Canavanase	Arginase Deficiency Disease
ARGIN

Methylmalonic Acidemia

Methylmalonic Aciduria	Mma
Acidemia, Methylmalonic	Isolated Methylmalonic Acidemia

Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of

Vlcad Deficiency	Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency	Lcad Deficiency
Very Long-Chain Acyl-Coa Dehydrogenase Deficiency	Long Chain Acyl-Coa Dehydrogenase Deficiency
ACADVLD	Acadl Deficiency
Vlcadd	Long-Chain Acyl-Coa Dehydrogenase Deficiency
Acadvl	Acyl-Coa Dehydrogenase Very Long Chain Deficiency
Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency	Vlcad-C
Vlcad-H	Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of
Acyl-Coa Dehydrogenase Very Long-Chain Deficiency	Acyl-Coa Dehydrogenase Long-Chain Deficiency
Deficiency, Very Long Chain Acyl-Coa Dehydrogenase	Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency

Glycine Encephalopathy

Non-Ketotic Hyperglycinemia	Nonketotic Hyperglycinemia
NKH	GCE
Hyperglycinemia, Nonketotic	Hyperglycinemia Nonketotic
Infantile Glycine Encephalopathy	Encephalopathy, Glycine
Glycine Synthase Deficiency	Nka
Neonatal Glycine Encephalopathy	Classic Glycine Encephalopathy
Neonatal Nkh	Neonatal Non-Ketotic Hyperglycinemia
Infantile Nkh	Infantile Non-Ketotic Hyperglycinemia
Non-Ketotic Hyperglycinaemia	Glycine Cleavage Deficiency
Nonketotic Hyperglycinaemia

Glutaric Acidemia I

Glutaryl-Coa Dehydrogenase Deficiency	GA1
Glutaric Acidemia Type 1	Glutaric Aciduria 1
Glutaric Aciduria Type 1	Glutaric Acidemia Type I
Glutaric Aciduria, Type 1	Glutaric Aciduria I
Ga I	Glutaricaciduria, Type I
Glutaryl-Coenzyme A Dehydrogenase Deficiency	Glutaric Academia Type 1
Glutaric Aciduria Type I	Ga-1
Gcdh Deficiency	Ga 1
Glutaric Acidemia 1	Gcdhd
Glutaric Aciduria, Type I	Glutaricaciduria I
Ga-I	Glutaricaciduria, Type 1

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS01409	BCKDHA Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	BCKDHA	RGD	RGD:2196
Mus musculus	BCKDHA	MGD	MGI:107701

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沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

BCKDHA - branched chain keto acid dehydrogenase E1 subunit alpha Gene

关于 BCKDHA

功能概要

BCKDHA 基因产物(2)

BCKDHA 蛋白结构

BCKDHA 蛋白互作信息

关联疾病

直系同源

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BCKDHA - branched chain keto acid dehydrogenase E1 subunit alpha Gene

关于 BCKDHA

功能概要

BCKDHA 基因产物(2)

BCKDHA 蛋白结构

BCKDHA 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z