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Reviewed April 2014
What is the official name of the PFKM gene?
The official name of this gene is “phosphofructokinase, muscle.”
PFKM is the gene's official symbol. The PFKM 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 PFKM gene?
The PFKM gene provides instructions for making one piece (the PFKM subunit) of an enzyme called phosphofructokinase. This enzyme plays a role in the breakdown of a complex sugar called glycogen, which is a major source of stored energy in the body. The phosphofructokinase enzyme is made up of four subunits and is found in a variety of tissues. Different combinations of subunits are found in different tissues. In muscles used for movement (skeletal muscles), the phosphofructokinase enzyme is composed solely of subunits produced from the PFKM gene.
The cells' main source of energy is stored as glycogen. Glycogen can be broken down rapidly into the simple sugar glucose when energy is needed, for instance to maintain normal blood sugar levels between meals or for energy during exercise. Phosphofructokinase composed of PFKM subunits is involved in the sequence of events that breaks down glycogen to provide energy to muscle cells. Specifically, the enzyme converts a molecule called fructose-6-phosphate to a molecule called fructose 1,6-bisphosphate.
How are changes in the PFKM gene related to health conditions?
Where is the PFKM gene located?
Cytogenetic Location: 12q13.3
Molecular Location on chromosome 12: base pairs 48,105,872 to 48,146,403
The PFKM gene is located on the long (q) arm of chromosome 12 at position 13.3.
More precisely, the PFKM gene is located from base pair 48,105,872 to base pair 48,146,403 on chromosome 12.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PFKM?
You and your healthcare professional may find the following resources about PFKM 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 PFKM 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 PFKM?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (5 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.