Q6NVY1
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
HIBCH protein
NCBI Official Synonym Full Names
3-hydroxyisobutyryl-CoA hydrolase
NCBI Official Synonym Symbols
NCBI Protein Information
3-hydroxyisobutyryl-CoA hydrolase, mitochondrial; HIBYL-CoA-H; HIB-CoA hydrolase; OTTHUMP00000163512; OTTHUMP00000205554; 3-hydroxyisobutyryl-Coenzyme A hydrolase
UniProt Protein Name
3-hydroxyisobutyryl-CoA hydrolase, mitochondrial
UniProt Synonym Protein Names
3-hydroxyisobutyryl-coenzyme A hydrolase
UniProt Entry Name
HIBCH_HUMAN
NCBI Summary for HIBCH
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.
UniProt Comments for HIBCH
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: Hydrolase; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Other Amino Acids Metabolism - beta-alanine; Carbohydrate Metabolism - propanoate; EC 3.1.2.4; Mitochondrial
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
Research Articles on HIBCH
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Pathways associated with anti-HIBCH antibody
Diseases associated with anti-HIBCH antibody
Organs/Tissues associated with anti-HIBCH antibody
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