ACAD8 gene

acyl-CoA dehydrogenase family member 8

The ACAD8 gene provides instructions for making an enzyme called isobutyryl-CoA dehydrogenase (IBD). This enzyme is found in mitochondria, the energy-producing centers inside cells. The IBD enzyme is involved in breaking down proteins from food. Specifically, this enzyme is responsible for the third step in the breakdown of a protein building block (amino acid) called valine. The IBD enzyme converts a molecule called isobutyryl-CoA into a molecule called methylacrylyl-CoA. Other enzymes further break down methylacrylyl-CoA into molecules that cells can use for energy.

At least 19 mutations in the ACAD8 gene have been found to cause isobutyryl-CoA dehydrogenase (IBD) deficiency. Some of these mutations reduce the activity of the IBD enzyme, while other mutations prevent the gene from producing any functional enzyme. As a result, valine is not broken down properly. An inability to process valine may lead to reduced energy production and the features of IBD deficiency.

Cytogenetic Location: 11q25, which is the long (q) arm of chromosome 11 at position 25

Molecular Location: base pairs 134,253,532 to 134,265,858 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q25, which is the long (q) arm of chromosome 11 at position 25
  • ACAD-8
  • ACAD8_HUMAN
  • Activator-recruited cofactor 42 kDa component
  • acyl-CoA dehydrogenase family, member 8
  • acyl-coenzyme A dehydrogenase 8
  • ARC42
  • FLJ22590