PLB(Phospho Ser16/T17) Polyclonal Antibody, 20ul Diagnostic Probes & Oligos Specific mutations in DYSF have

Specific mutations in DYSF have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy

They serve as targets for the small GTP binding proteins Cdc42 and Rac and have been implicated in a wide range of biological activities

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They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development

is essential for heart development

PLB(Phospho Ser16/T17) Polyclonal Antibody, 20ul Diagnostic Probes & Oligos Specific mutations in DYSF haveThe 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