GnRH est un gène codé par le symbole GNRH1. Communément appelé aussi: Progonadoliberin-1; Progonadoliberin I1; GRH; LHRH. GnRH a une masse de 10.38kDa, une longueur d'acide aminé de 92, et est impliqué dans Hypogonadotropic hypogonadism 12 with or without anosmia.
Nous proposons 2 GnRH protéines
Informations sur les Gènes et les Protéines
Résumé UniProt
Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones.
Résumé Entrez
This gene encodes a preproprotein that is proteolytically processed to generate a peptide that is a member of the gonadotropin-releasing hormone (GnRH) family of peptides. Alternative splicing results in multiple transcript variants, at least one of which is secreted and then cleaved to generate gonadoliberin-1 and GnRH-associated peptide 1. Gonadoliberin-1 stimulates the release of luteinizing and follicle stimulating hormones, which are important for reproduction. Mutations in this gene are associated with hypogonadotropic hypogonadism.
Implication dans la maladie
Hypogonadotropic hypogonadism 12 with or without anosmia: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
Similitudes de séquence
Belongs to the GnRH family.
Localisation cellulaire
Secreted.
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