PLN wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PLN wild-type allele is located in the vicinity of 6q22.31 and is approximately 13 kb in length. This allele, which encodes cardiac phospholamban protein, plays a role in calcium re-uptake during muscle relaxation and the inhibition of calcium transport by sarcoplasmic/endoplasmic reticulum calcium ATPase 2 (ATP2A2). Mutations in the gene are associated with dilated cardiomyopathy 1P and hypertrophic cardiomyopathy 18.

**Synonyms:** - CMD1P - CMH18 - PLB - Phospholamban wt Allele