Importantly, the functions of the members of the CASA pathway are conserved in metazoans (Arndt et al., 2010), and specific mutations in human homologues have been identified in Charcot-Marie Tooth type 2L, myopathy, cardiomyopathy, neuropathy and their over-expression is associated with poor prognosis in various cancers and also chemoresistance (Leber et al., 2016; Matsushima-Nishiwaki et al., 2017; Shen et al., 2018; Verdonschot et al., 2020; Cristofani et al., 2021; Kirk et al., 2021; Yerabandi et al., 2022). The gene discussed is CSN1S1; the disease is myopathy.