Disease-gene associations mined from literature

Literature associating PLN and hypertrophic cardiomyopathy

PLN [ENSP00000350132]

Cardiac phospholamban; 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; Belongs to the phospholamban family.

Synonyms:  PLN,  P26678,  Q5R352,  P26678p,  hP26678 ...

Linkouts:  STRING  Pharos  UniProt  OMIM