SEPT12 mutations cause male infertility with defective sperm annulus.

@article{Kuo2012SEPT12MC,
  title={SEPT12 mutations cause male infertility with defective sperm annulus.},
  author={Yung-Che Kuo and Ying-Hung Lin and Hau-Inh Chen and Ya-yun Wang and Yu-Wei Chiou and Hong Cheu Lin and H Pan and C Wu and Shih-Ming Su and Chao-Chin Hsu and Pao-Lin Kuo},
  journal={Human mutation},
  year={2012},
  volume={33 4},
  pages={710-9}
}
Septins are members of the GTPase superfamily, which has been implicated in diverse cellular functions including cytokinesis and morphogenesis. Septin 12 (SEPT12) is a testis-specific gene critical for the terminal differentiation of male germ cells. We report the identification of two missense SEPT12 mutations, c.266C>T/p.Thr89Met and c.589G>A/p.Asp197Asn, in infertile men. Both mutations are located inside the GTPase domain and may alter the protein structure as suggested by in silico… CONTINUE READING
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Distinct roles of septins in cytokinesis: SEPT9 mediates midbody abscission

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