Anti-HMGCL antibody

Supplementary info

Activity summary

HMGCL or 3-hydroxymethyl-3-methylglutaryl-CoA lyase plays an important role in ketogenesis and leucine catabolism. This enzyme catalyzes the cleavage of HMG-CoA to acetoacetate and acetyl-CoA. It has a molecular mass of approximately 33 kDa. HMGCL expresses mainly in the liver kidney and brain where ketogenesis is active signifying its essential role in energy metabolism in fasting conditions.

Biological function summary

This enzyme contributes to the production of ketone bodies important components during periods of low glucose availability. HMGCL does not function as part of a multi-protein complex but its action underpins the metabolic switch from glucose to fatty acids and ketone body usage. Proper functioning of this enzyme helps maintain energy balance especially during fasting and extended exercise.

Pathways

HMGCL plays a significant role in the ketogenic pathway linking fatty acid oxidation to ketone body production. It also intersects with leucine degradation pathways reflecting its dual substrate specificity. HMGCL shares links with proteins involved in lipid metabolism such as HMG-CoA synthase which provides the substrate for its enzymatic activity.

Associated diseases and disorders

Defects in HMGCL associate with HMG-CoA lyase deficiency a metabolic disorder hallmarked by hypoketotic hypoglycemia and metabolic acidosis. This condition highlights the enzyme's role in ketogenesis. Additionally its impaired function links to potential exacerbation of seizures due to energy metabolism failure. The enzyme's activity correlates with enzymes like carnitine palmitoyltransferase I which also impact energy metabolism through ketogenesis.