There are indications that ZPR1 may function upstream of SMN, which is downregulated in response to ZPR1 knockdown, and SMN levels are elevated in SMA mice and SMA patient cells in response to ZPR1 upregulation (Ahmad et al., 2012; Kannan et al., 2020). The gene discussed is ZPR1; the disease is proximal spinal muscular atrophy.