| Entrez gene ID | | 5350 |
| Official gene symbol | | PLN |
| Full name | | phospholamban |
| Aliases | | ,CMD1P,PLB, |
| Gene summary | | 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] |
| Location | | Chromosome: 6 Locus: 6q22.1 |
| Gene position | | 118869442 - 118881587 Map Viewer |
| Gene orientation | | plus |
| Gene size | | 12146 bp |
| Gene sequence |
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| OMIM ID | | 172405 |
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