Several of these functionally uncharacterized proteins are associated with human diseases including ciliary dyskinesia (CLXN (Hjeij et al, 2023)), Lui-Jee-Baron syndrome (SPIN4 (Lui et al, 2023)), lymphoblastic leukemia (LNP1 (Romana et al, 2006), SLX4IP (Meissner et al, 2014)), lethal skeletal dysplasia (TMEM263 (Mohajeri et al, 2021)), and association to autism and fragile X syndrome (DIPK2B (Aziz et al, 2011)). The gene discussed is SPIN4; the disease is Lethal skeletal dysplasia.