For instance, mutations in SC5D encoding Sterol C-5 Desaturase (enzyme 16 in Fig. 4 B; downregulated 1.75-fold in Piezo1 KO brains) cause lathosterolosis, a condition resulting in multiple congenital anomalies and intellectual disability (Brunetti-Pierri et al., 2002). The gene discussed is SC5D; the disease is lathosterolosis.