DISEASES

Disease-gene associations mined from literature

Literature associating HIBCH and pyruvate decarboxylase deficiency

HIBCH [ENSP00000352706]

3-hydroxyisobutyryl-CoA hydrolase, mitochondrial; 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.

Synonyms:  HIBCH,  B8ZZZ0,  B9A058,  F8W8A6,  H7C1A5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM