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

ACAD8 - acyl-CoA dehydrogenase family member 8 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as IBDH; ARC42; ACAD-8

Gene ID: 27034 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA Protein Name
NM_014384.3 NP_055199.1 isobutyryl-CoA dehydrogenase, mitochondrial

ACAD8 Protein Structure

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)

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  • 415 a.a.
Protein Preferred Names Protein Names

isobutyryl-CoA dehydrogenase, mitochondrial

activator-recruited cofactor 42 kDa component

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS00125 ACAD8 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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