|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
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.
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]
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.
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.
|609909 (http://omim.org/entry/609909)||CARDIOMYOPATHY, DILATED, 1P|
|613874 (http://omim.org/entry/613874)||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18|
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about PLN helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
arrhythmia ; benign ; Ca ; calcium ; cardiac ; cardiomyopathy ; dilated ; dilation ; dyspnea ; familial ; gene ; heart failure ; hereditary ; homeostasis ; hypertrophic ; hypertrophy ; inherited ; intrafamilial variability ; kinase ; palpitations ; phosphorylation ; protein ; sarcoplasmic reticulum ; septum ; syncope
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.