• Gene id: 27034

Gene Summary

• Gene Symbol: ACAD8   Gene   UCSC   Ensembl
• Aliases: ACAD-8, ARC42, IBDH
• Gene name: acyl-CoA dehydrogenase family member 8
• Alternate names: isobutyryl-CoA dehydrogenase, mitochondrial, activator-recruited cofactor 42 kDa component, acyl-Coenzyme A dehydrogenase family, member 8,
• Gene location: 11q25 (134253537: 134265857)     Exons: 14     NC_000011.10
• Gene summary(Entrez): 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 functio

Protein Summary

• Protein general information: Q9UKU7  
  • Name: Isobutyryl CoA dehydrogenase, mitochondrial (IBDH) (EC 1.3.8. ) (Activator recruited cofactor 42 kDa component) (ARC42) (Acyl CoA dehydrogenase family member 8) (ACAD 8)
  • Length: 415  
  • Mass: 45070
  • Tissue specificity: Detected at comparable levels in all tissues examined (heart, lung, brain, skeletal muscle, pancreas and placenta). Weakly expressed in liver and kidney.
• Sequence:

  MLWSGCRRFGARLGCLPGGLRVLVQTGHRSLTSCIDPSMGLNEEQKEFQKVAFDFAAREMAPNMAEWDQKELFPV
  DVMRKAAQLGFGGVYIQTDVGGSGLSRLDTSVIFEALATGCTSTTAYISIHNMCAWMIDSFGNEEQRHKFCPPLC
  TMEKFASYCLTEPGSGSDAASLLTSAKKQGDHYILNGSKAFISGAGESDIYVVMCRTGGPGPKGISCIVVEKGTP
  GLSFGKKEKKVGWNSQPTRAVIFEDCAVPVANRIGSEGQGFLIAVRGLNGGRINIASCSLGAAHASVILTRDHLN
  VRKQFGEPLASNQYLQFTLADMATRLVAARLMVRNAAVALQEERKDAVALCSMAKLFATDECFAICNQALQMHGG
  YGYLKDYAVQQYVRDSRVHQILEGSNEVMRILISRSLLQE

• Structural information:
  • Interpro: IPR006089  IPR006091  IPR036250  IPR009075  IPR013786   IPR037069  IPR009100  IPR034178  
  • Prosite: PS00072
  • CDD: cd01162
  • PDB: 1RX0
  • PDBsum: 1RX0
  • STRING: ENSP00000281182
• Other Databases: GeneCards:  ACAD8  Malacards:  ACAD8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003995	acyl-CoA dehydrogenase activity	IEA	molecular function
GO:0050660	flavin adenine dinucleotide binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016627	oxidoreductase activity, acting on the CH-CH group of donors	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0009083	branched-chain amino acid catabolic process	IEA	biological process
GO:0003995	acyl-CoA dehydrogenase activity	TAS	molecular function
GO:0006629	lipid metabolic process	TAS	biological process
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0009083	branched-chain amino acid catabolic process	TAS	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006574	valine catabolic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00280	Valine, leucine and isoleucine degradation

Diseases

Associated diseases	References
Isobutyryl-CoA dehydrogenase deficiency	KEGG:H01279
Isobutyryl-CoA dehydrogenase deficiency	KEGG:H01279
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray