HIBCH Antibody – Mouse Monoclonal

HIBCH: 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. Defects in HIBCH are the cause of HIBCH deficiency (HIBCHD); 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. Belongs to the enoyl-CoA hydratase/isomerase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Carbohydrate Metabolism - propanoate; EC 3.1.2.4; Mitochondrial; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Hydrolase; Other Amino Acids Metabolism - beta-alanine

Chromosomal Location of Human Ortholog: 2q32.2

Cellular Component: mitochondrial matrix

Molecular Function: 3-hydroxyisobutyryl-CoA hydrolase activity

Biological Process: valine catabolic process; branched chain family amino acid catabolic process

Disease: Beta-hydroxyisobutyryl Coa Deacylase Deficiency