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MUT

MUT

Reviewed July 2011

What is the official name of the MUT gene?

The official name of this gene is “methylmalonyl CoA mutase.”

MUT is the gene's official symbol. The MUT 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 MUT gene?

The MUT gene provides instructions for making an enzyme called methylmalonyl CoA mutase. This enzyme is active in mitochondria, which are specialized structures inside cells that serve as energy-producing centers.

Methylmalonyl CoA mutase is responsible for a particular step in the breakdown of several protein building blocks (amino acids), specifically isoleucine, methionine, threonine, and valine. The enzyme also helps break down certain types of fats (lipids) and cholesterol. First, several chemical reactions convert the amino acids, lipids, or cholesterol to a molecule called methylmalonyl CoA. Then, working with a compound called adenosylcobalamin (AdoCbl), which is a form of vitamin B12, methylmalonyl CoA mutase converts methylmalonyl CoA to a compound called succinyl-CoA. Other enzymes break down succinyl-CoA into molecules that are later used for energy.

How are changes in the MUT gene related to health conditions?

methylmalonic acidemia - caused by mutations in the MUT gene

More than 200 mutations in the MUT gene have been identified in people with methylmalonic acidemia, a condition characterized by feeding difficulties, developmental delay, and long-term health problems. These genetic changes prevent the production of functional methylmalonyl CoA mutase or reduce the activity of the enzyme. As a result, certain proteins and lipids are not broken down properly. This defect allows methylmalonyl CoA and other toxic compounds to build up in the body's organs and tissues, causing the signs and symptoms of methylmalonic acidemia.

Mutations that prevent the production of any functional methylmalonyl CoA mutase lead to a form of methylmalonic acidemia designated mut0. Mut0 is the most severe form of this disorder and has the poorest outcome. Mutations that alter the structure of the enzyme but do not completely eliminate its activity lead to a form of the condition designated mut-. The mut- form is typically less severe, with more variable symptoms than the mut0 form.

Where is the MUT gene located?

Cytogenetic Location: 6p12.3

Molecular Location on chromosome 6: base pairs 49,430,359 to 49,463,327

The MUT gene is located on the short (p) arm of chromosome 6 at position 12.3.

The MUT gene is located on the short (p) arm of chromosome 6 at position 12.3.

More precisely, the MUT gene is located from base pair 49,430,359 to base pair 49,463,327 on chromosome 6.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about MUT?

You and your healthcare professional may find the following resources about MUT 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 MUT gene or gene products?

  • MCM
  • methylalonyl-CoA mutase
  • methylamlony-CoA isomerase
  • methylmalonyl Coenzyme A mutase
  • methylmalonyl Coenzyme A mutase precursor
  • MUTA_HUMAN

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 MUT?

acids ; breakdown ; cholesterol ; CoA ; coenzyme A ; compound ; developmental delay ; enzyme ; gene ; isoleucine ; methionine ; mitochondria ; molecule ; precursor ; protein ; threonine ; toxic ; valine ; vitamin B12

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.

 
Reviewed: July 2011
Published: September 15, 2014