ACAD8 - acyl-CoA dehydrogenase family member 8 Gene

Also Known as IBDH; ARC42; ACAD-8

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 27034

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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
33961781 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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)

  • 0
  • 100
  • 200
  • 300
  • 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

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
Others ACAD8 NCBI