Rare mutations in the PLN gene have been identified with autism (Marshall et al., 2008).
Molecular Function
The encoded protein is an inhibitor of cardiac muscle sarcoplasmic reticulum Ca (2+)-ATPase in the unphosphorylated state, but inhibition is relieved upon phosp horylation of the protein.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Structural variation of chromosomes in autism spectrum disorder.
Phospholamban acts as a critical repressor of basal myocardial contractility and may be the key phosphoprotein in mediating the heart's contractile responses to beta-adrenergic agonists.
References
Type
Title
Author, Year
Primary
Targeted ablation of the phospholamban gene is associated with markedly enhanced myocardial contractility and loss of beta-agonist stimulation.
Model Type:
Genetic
Model Genotype:
Homozygous
Mutation:
Targeting vector eliminating the entire phospholamban-coding region of the Pln gene.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not Specified
Genetic Background: 129/Sv
ES Cell Line: D3
Mutant ES Cell Line: Not Specified
Model Source: Not Specified
Description: Increased intra-ventricular pressure and maximal rates of pressure development
Exp Paradigm: Perfusion of work-performing heart preparations
Description: Increased baseline dose-response curves for contraction and relaxation to isoporterenol
Exp Paradigm: Perfusion of work-performing heart preparations with increasing isoproterenol concentrations
