Biallelic loss-of-function mutations in SEPTIN4 (C17ORF47), encoding a conserved annulus protein, cause thin midpiece spermatozoa and male infertility in humans.
Wang G, Zhu X, Gao Y, Lv M, Li K, Tang D, Wu H, Xu C, Geng H, Shen Q, et al. Hum Mutat. 2022 Dec; 43(12):2079-2090. Epub 2022 Oct 2.