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Gene Review

HIBCH  -  3-hydroxyisobutyryl-CoA hydrolase

Homo sapiens

Synonyms: 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial, 3-hydroxyisobutyryl-coenzyme A hydrolase, HIB-CoA hydrolase, HIBYL-CoA-H
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High impact information on HIBCH

  • Molecular analysis in both patients uncovered mutations in the HIBCH gene, including one missense mutation in a conserved part of the protein and two mutations affecting splicing [1].


  1. Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration. Loupatty, F.J., Clayton, P.T., Ruiter, J.P., Ofman, R., Ijlst, L., Brown, G.K., Thorburn, D.R., Harris, R.A., Duran, M., Desousa, C., Krywawych, S., Heales, S.J., Wanders, R.J. Am. J. Hum. Genet. (2007) [Pubmed]
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