Background: Kisspeptins, encoded by KISS1 (kisspeptin) gene binds to its receptor KISS1R (kisspeptin receptor also known as a Gprotein coupled receptor GPR54), that is expressed by gonadotropin-releasing hormone (GnRH) neurons and motivates GnRH release. KISS1 and its receptor play a critical role in the regulation of fertility and the mammalian reproductive axis activation, thus affecting fertility and reproduction in human and other species. Mutations in KISS1 gene and its receptor can be as a cause for infertility. However, there is only a limited amount of information available regarding the KISS1 gene mutations and its polymorphisms.
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