RyR-2(Phospho Ser2808) Polyclonal Antibody, 50ul Reagent Reservoirs Mutations in LMNA lead to

Mutations in LMNA lead to several diseases: emery-Dreifuss muscular dystrophy

Bethlem myopathy

The protein functions to initiate or augment the early phase of T-cell activation

Defects in this gene are a cause of 3M syndrome type 1 (3M1)

an integral membrane protein found in the inner nuclear membrane

RyR-2(Phospho Ser2808) Polyclonal Antibody, 50ul Reagent Reservoirs Mutations in LMNA lead toThis gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia.