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Título del libro: Encyclopedia Of Endocrine Diseases
Título del capítulo: Mutations of the gonadotropin-releasing hormone receptor gene

Autores UNAM:
ALFREDO ANTONIO ULLOA Y AGUIRRE; TERESA DE JESUS ZARIÑAN GARCIA;
Autores externos:

Idioma:

Año de publicación:
2026
Palabras clave:

G protein coupled receptors; GnRHR; Gonadotrope; Gonadotropin; Gonadotropin-releasing hormone; Gonadotropin-releasing hormone receptor; Hormone receptors; Hypogonadotropic hypogonadism; Intracellular trafficking; Mutation; Pharmacological chaperon; Pharmacoperone


Resumen:

© 2026 Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.The gonadotropin-releasing hormone (GnRH) receptor (GnRHR) is a plasma membrane glycoprotein that mediates the binding and intracellular signaling of GnRH. GnRH is responsible for the synthesis and release of the pituitary gonadotropins, luteinizing hormone, and follicle-stimulating hormone. Mutations in the GNRHR may lead to structural alterations of the receptor protein and, consequently, to abnormal GnRH receptor cellular distribution and/or function (agonist binding, activation and/or effector coupling), thereby causing isolated hypogonadotropic hypogonadism. The use of small molecule chaperones to rescue mutant GnRH receptors has provided a new approach for the treatment of this disease when the mutation leads to misfolding and misrouting.


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