3 hydroxyisobutyryl Coenzyme A hydrolase, mitochondrial
3-hydroxyisobutyryl-coenzyme A hydrolase
BETA HYDROXYISOBUTYRYL COENZYME A HYDROLASE
HIB CoA hydrolase
HIBYL CoA H
FunctionHydrolyzes 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.
Tissue specificityHighly expressed in liver and kidney, also detected in heart, muscle and brain (at protein level). Not detected in lung.
Involvement in diseaseDefects in HIBCH are the cause of HIBCH deficiency (HIBCHD) [MIM:250620]; also known as deficiency of beta-hydroxyisobutyryl CoA deacylase or methacrylic aciduria. The enzyme defect results in accumulation of methacrylyl-CoA, a highly reactive compound, which readily undergoes addition reactions with free sulfhydryl groups. Affected individuals showed delayed development of motor skills, hypotonia, initial poor feeding, and a deterioration in neurological function during first stages of life.
Sequence similaritiesBelongs to the enoyl-CoA hydratase/isomerase family.