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Reviewed April 2012
What is the official name of the PKLR gene?
The official name of this gene is “pyruvate kinase, liver and RBC.”
PKLR is the gene's official symbol. The PKLR 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 PKLR gene?
The PKLR gene is active (expressed) in the liver and in red blood cells, where it provides instructions for producing an enzyme called pyruvate kinase. This enzyme is involved in a critical energy-producing process known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy. Specifically, pyruvate kinase is involved in the last step of the glycolytic pathway. In this step, a cluster of oxygen and phosphorus atoms (a phosphate group) is moved from a molecule called phosphoenolpyruvate to another molecule called adenosine diphosphate (ADP), resulting in molecules called pyruvate and adenosine triphosphate (ATP). ATP is the cell's main energy source.
How are changes in the PKLR gene related to health conditions?
Where is the PKLR gene located?
Cytogenetic Location: 1q21
Molecular Location on chromosome 1: base pairs 155,289,293 to 155,308,709
(Homo sapiens Annotation Release 107, GRCh38.p2) (
The PKLR gene is located on the long (q) arm of chromosome 1 at position 21.
More precisely, the PKLR gene is located from base pair 155,289,293 to base pair 155,308,709 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PKLR?
You and your healthcare professional may find the following resources about PKLR 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 PKLR 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 PKLR?
acids ; adenosine diphosphate ; adenosine triphosphate ; ADP ; anemia ; ATP ; bile ; bilirubin ; cell ; deficiency ; enzyme ; expressed ; gallbladder ; gene ; glucose ; iron ; isozyme ; jaundice ; kinase ; malaria ; molecule ; mutation ; oxygen ; pallor ; phosphate ; phosphorus ; protein ; RBC ; simple sugar
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (11 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.