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
- 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)