SPATA46 and Globozoospermia: Dam et al. (2007) identified a homozygous mutation (c.848G.A) in exon 4 of the SPATA16 gene in three brothers affected with globozoospermia from a consanguineous Ashkenazi Jewish family. This mutation leads to the substitution of an arginine to a glutamine at residue 283 (R283Q) in the protein (Dam et al., 2007). Moreover, SPATA1, SPATA9, SPATA16, SPATA6, SPATA3, SPATA20, SPATA18, SPATA25, and SPATA46 were up-regulated in the mature testis.