Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.

@article{Mizuguchi2018LossoffunctionAG,
  title={Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.},
  author={Takeshi Mizuguchi and Mitsuko Nakashima and Mitushiro Kato and Nobuhiko Okamoto and Hirokazu Kurahashi and Nina Ekhilevitch and Masaaki Shiina and Gen Nishimura and Takashi Shibata and Muneaki Matsuo and Tae Ikeda and Kazuhiro Ogata and Naomi Tsuchida and Satomi Mitsuhashi and Satoko Miyatake and Atsushi Takata and Noriko Miyake and Kenichiro Hata and Tadashi Kaname and Yoichi Matsubara and Hirotomo Saitsu and Naomichi Matsumoto},
  journal={Human molecular genetics},
  year={2018},
  volume={27 8},
  pages={1421-1433}
}
Calcineurin is a calcium (Ca2+)/calmodulin-regulated protein phosphatase that mediates Ca2+-dependent signal transduction. Here, we report six heterozygous mutations in a gene encoding the alpha isoform of the calcineurin catalytic subunit (PPP3CA). Notably, mutations were observed in different functional domains: in addition to three catalytic domain mutations, two missense mutations were found in the auto-inhibitory (AI) domain. One additional frameshift insertion that caused premature… CONTINUE READING
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