2. Gene
  3. IVD - isovaleryl-CoA dehydrogenase Gene

IVD - isovaleryl-CoA dehydrogenase Gene

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

中文名称：异戊酰辅酶 A 脱氢酶

种属: Homo sapiens

同用名: IVDH; ACAD2

基因 ID: 3712 | 基因类型: protein coding

关于 IVD

Cytogenetic location: 15q15.1 Genomic coordinates (GRCh38): 15:40,405,795-40,435,947 (from NCBI)

This gene has 15 transcripts (splice variants), 203 orthologues, 14 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 25.0), liver (RPKM 18.5) and 24 other tissues.

功能概要

异戊酰辅酶 A 脱氢酶 (IVD) 是一种线粒体基质酶，可催化亮氨酸分解代谢的第三步。 IVD 的遗传缺陷导致异戊酸的积累，这对中枢神经系统有毒并导致异戊酸血症。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2017 年 8 月]

Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix Enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]

IVD 基因产物(7)

mRNA Protein Name
NM_001159508.3 NP_001152980.2 isovaleryl-CoA dehydrogenase, mitochondrial isoform 2 precursor
NM_001354597.3 NP_001341526.1 isovaleryl-CoA dehydrogenase, mitochondrial isoform 3
NM_001354598.3 NP_001341527.2 isovaleryl-CoA dehydrogenase, mitochondrial isoform 4
NM_001354599.3 NP_001341528.2 isovaleryl-CoA dehydrogenase, mitochondrial isoform 5
NM_001354600.3 NP_001341529.2 isovaleryl-CoA dehydrogenase, mitochondrial isoform 6
NM_001354601.3 NP_001341530.2 isovaleryl-CoA dehydrogenase, mitochondrial isoform 7
NM_002225.5 NP_002216.3 isovaleryl-CoA dehydrogenase, mitochondrial isoform 1 precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 3-methylbutanoyl-CoA dehydrogenase activity IDA
IDA: 通过直接分析推断
3597357 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in L-leucine catabolic process IDA
IDA: 通过直接分析推断
7640268 GOA
involved in branched-chain amino acid catabolic process IDA
IDA: 通过直接分析推断
7640268 GOA
involved in fatty acid beta-oxidation using acyl-CoA dehydrogenase IDA
IDA: 通过直接分析推断
3597357 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

IVD 蛋白结构

Acyl-CoA_dh_N

Acyl-CoA_dh_N: Acyl-CoA dehydrogenase, N-terminal domain (46 - 160)

Acyl-CoA_dh_M

Acyl-CoA_dh_M: Acyl-CoA dehydrogenase, middle domain (164 - 215)

Acyl-CoA_dh_1

Acyl-CoA_dh_1: Acyl-CoA dehydrogenase, C-terminal domain (273 - 420)

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

isovaleryl-CoA dehydrogenase, mitochondrial

butyryl-CoA dehydrogenase

IVD 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
IVD P26440 ACTN3 Homo sapiens Q08043
Validated Y2H
32296183
种属内
IVD P26440 GPSM3 Homo sapiens Q9Y4H4
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 IVD 蛋白

目录号 产品名 蛋白编号 纯度
HY-P73857 IVD Protein, Human (sf9, His) P26440-1 (H33-H426) ≥95%

关联疾病

疾病名称 别名
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
Deafness, Autosomal Recessive 110

DFNB110

Autosomal Recessive Nonsyndromic Deafness 110

Autosomal Recessive Deafness 110

Deafness, Autosomal Recessive, 110
Glycogen Storage Disease Ixc

GSD9C

Glycogen Storage Disease Type Ixc

Gsd Ixc

Glycogen Storage Disease Type 9c

Glycogenosis Type 9c

Glycogenosis Type Ixc

Gsd Type 9c

Gsd Type Ixc

Glycogen Storage Disease 9c

Alg

Autosomal Liver Glycogenosis

Gsd-Ixc

Storage Disease, Glycogen, Type Ixc
Metabolic Acidosis
Glycerol Kinase Deficiency

Hyperglycerolemia

GKD

Gk Deficiency

Gk1 Deficiency

Deficiency Of Glycerol Kinase

Isolated Glycerol Kinase Deficiency

Glycerol Kinase Deficiency, Adult Form

Glycerol Kinase Deficiency, Juvenile Form

Deficiency, Glycerol Kinase
Rapp-Hodgkin Syndrome

RHS

Anhidrotic Ectodermal Dysplasia With Cleft Lip/Palate

Ectodermal Dysplasia, Rapp-Hodgkin Type

Rapp-Hodgkin Ectodermal Dysplasia Syndrome

Ectodermal Dysplasia, Anhidrotic, With Cleft Lip/Palate

Ectodermal Dysplasia Syndrome, Rapp-Hodgkin Type

Edrh

Rapp-Hodgkin Ectodermal Dysplasia

Orofacial Cleft 8
Glutaric Aciduria Iii

Glutaryl-Coa Oxidase Deficiency

Ga Iii

Glutaric Acidemia Type 3

GA3

Glutaric Aciduria Type 3

Glutaric Aciduria 3

Glutaric Acidemia Type Iii

Glutaric Aciduria Type Iii
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
Organic Acidemia

Organic Aciduria

Disorder Of Organic Acid Metabolism

Organic Acid Metabolism Disorder

Organic Acidemias

Inherited Organic Acidemia

Organic Acidurias

Aciduria Organic
Multiple Acyl-Coa Dehydrogenase Deficiency

MADD

Ethylmalonic-Adipicaciduria

Ema

Glutaric Acidemia Iia

Glutaric Acidemia Iib

Ga Ii

Glutaric Acidemia Iic

Glutaric Acidemia Type 2

Glutaric Acidemia Ii

Glutaric Aciduria Ii

Electron Transfer Flavoprotein Deficiency

Glutaric Aciduria Type 2

Mad Deficiency

Glutaric Acidemia Type Ii

Glutaric Aciduria 2

Etfa Deficiency

Etfb Deficiency

Etfdh Deficiency

Multiple Acyl Coenzyme A Dehydrogenase Deficiency

Ga2

Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency

Electron Transfer Flavoprotein Dehydrogenase Deficiency

Ga 2

Glutaric Acidemia 2

Glutaric Acidemia, Type 2

Glutaric Aciduria, Type 2

Mad

Multiple Fad Dehydrogenase Deficiency

Ethylmalonic Adipic Aciduria

Glutaricaciduria Ii

Glutaric Aciduria 2a

GA2A

Gaiia

Glutaricaciduria Iia

Glutaric Aciduria 2b

GA2B

Gaiib

Glutaricaciduria Iib

Glutaric Aciduria 2c

GA2C

Gaiic

Glutaricaciduria Iic

Glutaricaciduria, Type Iia

Glutaric Acidemia Type 2a

Glutaric Acidemia Type 2c

Glutaric Aciduria Iia

Glutaric Aciduria Iib

Glutaric Aciduria Iic
Cerebral Creatine Deficiency Syndrome 3

Arginine:Glycine Amidinotransferase Deficiency

Agat Deficiency

Gatm Deficiency

Creatine Deficiency Syndrome Due To Agat Deficiency

L-Arginine:Glycine Amidinotransferase Deficiency

CCDS3

L-Arginine:Glycine Aminidotransferase Deficiency

Deficiency, Cerebral Creatine, Syndrome, Type 3
Methylmalonic Acidemia

Methylmalonic Aciduria

Mma

Acidemia, Methylmalonic

Isolated Methylmalonic Acidemia
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
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS06999 IVD Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-D0932S Sudan IV-d6 / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus IVD MGD MGI:1929242
Felis catus IVD VGNC VGNC:80945
Bos taurus IVD VGNC VGNC:50203
Rattus norvegicus IVD RGD RGD:2936
Macaca mulatta IVD VGNC VGNC:84362
Canis familiaris IVD VGNC VGNC:54961
Others IVD NCBI
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