What is the official name of the PLN gene?
The official name of this gene is “phospholamban.”
PLN is the gene's official symbol. The PLN 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 PLN gene?
- From NCBI Gene:
The protein encoded by this gene is found as a pentamer and is a major substrate for the cAMP-dependent protein kinase in cardiac muscle. The encoded protein is an inhibitor of cardiac muscle sarcoplasmic reticulum Ca(2+)-ATPase in the unphosphorylated state, but inhibition is relieved upon phosphorylation of the protein. The subsequent activation of the Ca(2+) pump leads to enhanced muscle relaxation rates, thereby contributing to the inotropic response elicited in heart by beta-agonists. The encoded protein is a key regulator of cardiac diastolic function. Mutations in this gene are a cause of inherited human dilated cardiomyopathy with refractory congestive heart failure. [provided by RefSeq, Jul 2008]
- From UniProt:
Reversibly inhibits the activity of ATP2A2 in cardiac sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+). Modulates the contractility of the heart muscle in response to physiological stimuli via its effects on ATP2A2. Modulates calcium re-uptake during muscle relaxation and plays an important role in calcium homeostasis in the heart muscle. The degree of ATP2A2 inhibition depends on the oligomeric state of PLN. ATP2A2 inhibition is alleviated by PLN phosphorylation.
How are changes in the PLN gene related to health conditions?
- Genetics Home Reference provides information about these conditions associated with changes in the PLN gene:
- UniProt provides the following information about the PLN gene's known or predicted involvement in human disease.
Cardiomyopathy, dilated 1P (CMD1P): A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by mutations affecting the gene represented in this entry.
Cardiomyopathy, familial hypertrophic 18 (CMH18): A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. The disease is caused by mutations affecting the gene represented in this entry.
- NCBI Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the PLN gene.
- Dilated cardiomyopathy 1P
- Familial hypertrophic cardiomyopathy 18
- UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
Where is the PLN gene located?
Cytogenetic Location: 6q22.1
Molecular Location on chromosome 6: base pairs 118,548,278 to 118,560,423
The PLN gene is located on the long (q) arm of chromosome 6 at position 22.1.
More precisely, the PLN gene is located from base pair 118,548,278 to base pair 118,560,423 on chromosome 6.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PLN?
You and your healthcare professional may find the following resources about PLN helpful.
- Genetic Testing Registry - Repository of genetic test information
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog
- Research Resources - Tools for researchers
What other names do people use for the PLN gene or gene products?
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 PLN?
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
See How can I find a genetics professional in my area? in the Handbook.