KBP is important in a number of cellular processes, including neuronal development, spermatogenesis and mitosis, and its mutation causes Goldberg–Shprintzen syndrome (GOSHS; Alves et al., 2010 ▸; Brooks et al., 2005 ▸; Dafsari et al., 2015 ▸; Drerup et al., 2016 ▸; Lehti et al., 2013 ▸; Lyons et al., 2008 ▸; Malaby et al., 2019 ▸; Salehpour et al., 2017 ▸; Valence et al., 2013 ▸). Here, KIFBP is linked to Goldberg-Shprintzen syndrome.