Gene: CEP85L

Alternate names for this Gene: C6orf204|LIS10|NY-BR-15|bA57K17.2

Gene Summary: The protein encoded by this gene was identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6q22.31

Description of this Gene: centrosomal protein 85 like

Type of Gene: protein-coding

Gene: PLN

Alternate names for this Gene: CMD1P|CMH18|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, and also familial hypertrophic cardiomyopathy.

Gene is located in Chromosome: 6

Location in Chromosome : 6q22.31

Description of this Gene: phospholamban

Type of Gene: protein-coding

rs397516784 in CEP85L;PLN gene and CARDIOMYOPATHY, DILATED, 1P PMID 22155237 2012 The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase.

PMID 16432188 2006 A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.

PMID 22820313 2012 Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.

PMID 23568436 2013 Recurrent and founder mutations in the Netherlands-Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy.

PMID 22707725 2012 Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.

rs397516784 in CEP85L;PLN gene and Cardiomyopathies PMID 16432188 2006 A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.

PMID 22820313 2012 Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.

PMID 23785128 2013 Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.

rs397516784 in CEP85L;PLN gene and Cardiomyopathy, Dilated PMID 22707725 2012 Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.

PMID 22427649 2012 Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.

PMID 17010801 2006 Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy.

PMID 22155237 2012 The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase.

PMID 16432188 2006 A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.

PMID 22820313 2012 Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.

PMID 19324307 2009 Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes.