Genes Mutated in<unk>  Gene Product and its normal function Mutation’s effect on sperm in<unk>  DPY19L2 – most frequent mutation in<unk>  Transmembrane protein localised on the acrosome of spermatids. It contributes to normal acrosome formation by anchoring the acrosome to the spermatozoa nucleus. Sperm head elongation and acrosome formation fails causing a round-headed sperm to form so sperm are unable to bind the zona pellucida and fertilise the oocyte. Sperm concentration in the semen also reduces. PICK1 Cytosolic protein found in the proacrosomal vesicles of round spermatids. It functions during protein trafficking. Proacrosomal vesicles fail to merge causing a round-headed sperm to form so sperm are unable to bind the zona pellucida and fertilise the oocyte. SPATA16 A protein:protein interaction domain located in proacrosomal vesicles and golgi apparatus. It plays a role in spermatogenesis and acrosome formation. Acrosome is absent creating round-headed sperm unable to bind the zona pellucida and fertilise the oocyte. The gene was first identified in a family with three out of six brothers being homozygous for the mutation; their sperm was acrosomeless and showed round headedness. Table 1: Gene mutations that have been identified in<unk>  and the impact these mutations have on sperm function and successful fertilization.
Globozoospermia
Asthenozoospermia
Hypospermia
Azoospermia
Hematospermia
Teratospermia
Oligospermia
Parametritis