The study introduces NXT2 as a candidate gene for male infertility and shows that the encoded protein is involved in RNA nucleocytoplasmic transport in human testis by interacting with the RNA export factor NXF1 and proteins of the nuclear pore complex. NXT2 also interacts with the human testis-specific NXF1 paralogues NXF2 and NXF3. Mutations in NXT2 and NXF3 are linked to a disruption of nuclear export, leading to defective germ cell development and human male infertility.
- Ann-Kristin Dicke
- Ammar Ahmedani
- Birgit Stallmeyer
