Disease-gene associations mined from literature

Literature associating HMGCL and methylmalonic acidemia

HMGCL [ENSP00000363614]

Hydroxymethylglutaryl-CoA lyase, mitochondrial; Key enzyme in ketogenesis (ketone body formation). Terminal step in leucine catabolism. Ketone bodies (beta- hydroxybutyrate, acetoacetate and acetone) are essential as an alternative source of energy to glucose, as lipid precursors and as regulators of metabolism.

Synonyms:  HMGCL,  B1AK13,  D6REN8,  P35914,  B1AK13p ...

Linkouts:  STRING  Pharos  UniProt  OMIM