2. Gene
  3. ACAD8 - acyl-CoA dehydrogenase family member 8 Gene

ACAD8 - acyl-CoA dehydrogenase family member 8 Gene

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

中文名称：酰基辅酶 A 脱氢酶家族成员 8

种属: Homo sapiens

同用名: IBDH; ARC42; ACAD-8

基因 ID: 27034 | 基因类型: protein coding

关于 ACAD8

Cytogenetic location: 11q25 Genomic coordinates (GRCh38): 11:134,253,568-134,265,855 (from NCBI)

This gene has 17 transcripts (splice variants), 200 orthologues, 14 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 16.8), prostate (RPKM 12.2) and 25 other tissues.

功能概要

该基因编码酰基辅酶 A 脱氢酶家族的一个成员，该酶催化脂肪酸或支链氨基酸代谢中酰基辅酶 A 衍生物的脱氢作用。编码的蛋白质是一种线粒体酶，在支链氨基酸缬氨酸的分解代谢中起作用。该基因的缺陷是异丁酰辅酶 A 脱氢酶缺陷的原因。[RefSeq 提供，2009 年 11 月]

This gene encodes a member of the acyl-CoA dehydrogenase family of Enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained Amino acids. The encoded protein is a mitochondrial Enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.[provided by RefSeq, Nov 2009]

ACAD8 基因产物(1)

mRNA Protein Name
NM_014384.3 NP_055199.1 isobutyryl-CoA dehydrogenase, mitochondrial
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
33961781 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

ACAD8 蛋白结构

Acyl-CoA_dh_N

Acyl-CoA_dh_N: Acyl-CoA dehydrogenase, N-terminal domain (42 - 153)

Acyl-CoA_dh_M

Acyl-CoA_dh_M: Acyl-CoA dehydrogenase, middle domain (157 - 208)

Acyl-CoA_dh_1

Acyl-CoA_dh_1: Acyl-CoA dehydrogenase, C-terminal domain (263 - 413)

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

isobutyryl-CoA dehydrogenase, mitochondrial

activator-recruited cofactor 42 kDa component

关联疾病

疾病名称 别名
Isobutyryl-Coa Dehydrogenase Deficiency

Ibd Deficiency

Acad8 Deficiency

Deficiency Of Isobutyryl-Coa Dehydrogenase

IBDD

Isobutyryl-Coenzyme A Dehydrogenase Deficiency

Acyl-Coa Dehydrogenase Family, Member 8, Deficiency Of

Acyl-Coaa Dehydrogenase Family, Member 8, Deficiency Of

Isobutyric Aciduria

Deficiency Of Acyl-Coa Dehydrogenase Family Member 8
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of

Scad Deficiency

Acads Deficiency

Lipid-Storage Myopathy Secondary To Short-Chain Acyl-Coa Dehydrogenase Deficiency

Scadh Deficiency

Short-Chain Acyl-Coa Dehydrogenase Deficiency

Deficiency Of Butyryl-Coa Dehydrogenase

Short Chain Acyl-Coa Dehydrogenase Deficiency

ACADSD

Scadd

Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Acyl-Coa Dehydrogenase, Short Chain, Deficiency Of

Acyl-Coa Dehydrogenase Short-Chain Deficiency
3-Methylcrotonyl-Coa Carboxylase Deficiency

3-Methylcrotonylglycinuria

Mcc Deficiency

Methylcrotonyl-Coa Carboxylase Deficiency

Bmcc Deficiency

3-Mcc Deficiency

3mcc

Mccd

3mcc Deficiency

Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency

3-Mcc

3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency

Deficiency Of Methylcrotonoyl-Coa Carboxylase

3-Methyl Crotonyl-Coa Carboxylase Deficiency

3-Methylcrotonyl Coa Carboxylase 1 Deficiency
Immunodeficiency 48

Combined Immunodeficiency Due To Zap70 Deficiency

IMD48

Selective T-Cell Defect

Stcd

Zeta-Associated-Protein 70 Deficiency

Severe Combined Immunodeficiency, Atypical

Immunodeficiency, Type 48

Zap70 Deficiency
Encephalopathy, Ethylmalonic

Ethylmalonic Encephalopathy

EE

Epema Syndrome

Encephalopathy, Petechiae, And Ethylmalonic Aciduria

Ethe1 Deficiency

Eme

Syndrome Of Encephalopathy, Petechiae, And Ethylmalonic Aciduria
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
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
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00125 ACAD8 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus ACAD8 MGD MGI:1914198
Felis catus ACAD8 VGNC VGNC:68722
Bos taurus ACAD8 VGNC VGNC:25522
Rattus norvegicus ACAD8 RGD RGD:1564209
Canis familiaris ACAD8 VGNC VGNC:37492
Macaca mulatta ACAD8 VGNC VGNC:69593
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