The HMGCL gene provides instructions for making an enzyme called 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMG-CoA lyase). This enzyme is found in mitochondria, which are the energy-producing centers inside cells. HMG-CoA lyase plays a critical role in breaking down proteins and fats from the diet. Specifically, it is responsible for processing leucine, a protein building block (amino acid) that is part of many proteins. HMG-CoA lyase also produces ketones during the breakdown of fats. Ketones are compounds that certain organs and tissues, particularly the brain, use for energy when the simple sugar glucose is not available. For example, ketones are important sources of energy during periods of fasting.
Other Names
3-hydroxy-3-methylglutarate-CoA lyase; 3-hydroxy-3-methylglutaryl-Coenzyme A lyase; 3-hydroxymethyl-3-methylglutaryl-CoA lyase; 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase; HL; HMG-CoA lyase; HMGCL_HUMAN
Related Genetics Topics
Identifiers
- NCBI Gene: 3155
- OMIM: 613898
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
