Recombinant Human 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial (HIBCH)

Uniprot Id

Q6NVY1

Target Species

Human

Target Name

HIBCH

Target Full Name

3-hydroxyisobutyryl-CoA hydrolase, mitochondrial

Target 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.

Target Involvement

3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCHD)

Target Subcellular Location

Mitochondrion.

Target Protein Families

Enoyl-CoA hydratase/isomerase family

Target Tissue Specificity

Highly expressed in liver and kidney, also detected in heart, muscle and brain (at protein level). Not detected in lung.

Target Synonyms

3 hydroxyisobutyryl Coenzyme A hydrolase ; 3 hydroxyisobutyryl Coenzyme A hydrolase; mitochondrial ; 3-hydroxyisobutyryl-CoA hydrolase; 3-hydroxyisobutyryl-coenzyme A hydrolase; BETA HYDROXYISOBUTYRYL COENZYME A HYDROLASE; HIB CoA hydrolase; HIB-CoA hydrolase; HIBCH; HIBCH_HUMAN; HIBCoA hydrolase; HIBYL CoA H; HIBYL CoAH; HIBYL-CoA-H; HIBYLCoA H; HIBYLCoAH; mitochondrial

Target Background

This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.