Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism.

@article{Karges2003MutationAS,
  title={Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism.},
  author={Beate Karges and Wolfram Karges and Manuele Mine and Leopold Ludwig and Ronald K{\"u}hne and Edwin Milgrom and Nicolas de Roux},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2003},
  volume={88 4},
  pages={1873-9}
}
Mutations of the GnRH receptor have been recognized as a cause of familial gonadotropin deficiency. We here identify and functionally characterize a novel human GnRH receptor variant bearing an Ala(171)Thr substitution located at transmembrane helix 4 (TMH4). The affected kindred displays severe hypogonadotropic hypogonadism. After in vitro expression in… CONTINUE READING