HIBCH
Function
Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA.
Involvement in disease
3-hydroxyisobutryl-CoA hydrolase deficiency
HIBCHD
An autosomal recessive inborn error of valine metabolism. It causes severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Amino-acid degradation; L-valine degradation.
Sequence Similarities
Belongs to the enoyl-CoA hydratase/isomerase family.
Tissue Specificity
Highly expressed in liver and kidney, also detected in heart, muscle and brain (at protein level). Not detected in lung.
Cellular localization
- Mitochondrion
Alternative names
3-hydroxyisobutyryl-coenzyme A hydrolase, HIB-CoA hydrolase, HIBYL-CoA-H, HIBCH