Article
Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism.
The Journal of clinical endocrinology and metabolism - 1 Apr 2003
Karges Beate, Karges Wolfram, Mine Manuele, Ludwig Leopold, Kühne Ronald, Milgrom Edwin, de Roux Nicolas
Abstract excerpt
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 human embryonic kidney 293T cells, the Ala(171)Thr mutant...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.