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Reviewed October 2008
What is the official name of the MCCC2 gene?
The official name of this gene is “methylcrotonoyl-CoA carboxylase 2 (beta).”
MCCC2 is the gene's official symbol. The MCCC2 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 MCCC2 gene?
The MCCC2 gene provides instructions for making one part (the beta subunit) of an enzyme called 3-methylcrotonoyl-CoA carboxylase or 3-MCC. Beta subunits join with larger alpha subunits made from the MCCC1 gene; six of these pairings together form a functioning enzyme.
The 3-MCC enzyme is found in mitochondria, which are the energy-producing centers inside cells. This enzyme plays a critical role in breaking down proteins obtained from the diet. Specifically, it is responsible for the fourth step in the breakdown of leucine, an amino acid that is a building block of many proteins. This step converts a molecule called 3-methylcrotonyl-CoA to a molecule called 3-methylglutaconyl-CoA. Additional chemical reactions convert 3-methylglutaconyl-CoA into molecules that are later used for energy.
How are changes in the MCCC2 gene related to health conditions?
Where is the MCCC2 gene located?
Cytogenetic Location: 5q12-q13
Molecular Location on chromosome 5: base pairs 70,883,114 to 70,954,532
The MCCC2 gene is located on the long (q) arm of chromosome 5 between positions 12 and 13.
More precisely, the MCCC2 gene is located from base pair 70,883,114 to base pair 70,954,532 on chromosome 5.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about MCCC2?
You and your healthcare professional may find the following resources about MCCC2 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 MCCC2 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 MCCC2?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 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.