Consequently, loss-of-function mutations and diminished levels of CHP1 lead to altered NHE1 maturation, causing defective pH homeostasis in Purkinje neurons, thereby leading to axon degeneration and subsequent cell death and eventually to ataxia (Liu et al., 2013; Mendoza-Ferreira et al., 2018). The gene discussed is CHP1; the disease is cerebellar ataxia.