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Reviewed October 2008
What is the official name of the HMGCL gene?
The official name of this gene is “3-hydroxymethyl-3-methylglutaryl-CoA lyase.”
HMGCL is the gene's official symbol. The HMGCL gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the HMGCL gene?
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.
How are changes in the HMGCL gene related to health conditions?
Where is the HMGCL gene located?
Cytogenetic Location: 1p36.1-p35
Molecular Location on chromosome 1: base pairs 24,128,366 to 24,165,109
The HMGCL gene is located on the short (p) arm of chromosome 1 between positions 36.1 and 35.
More precisely, the HMGCL gene is located from base pair 24,128,366 to base pair 24,165,109 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about HMGCL?
You and your healthcare professional may find the following resources about HMGCL helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the HMGCL gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding HMGCL?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (9 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.