GNRH1

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. [provided by RefSeq, Nov 2015]

Gonadotropin Releasing Hormone 1

Stimulates the secretion of gonadotropins; it stimulates the secretion of both luteinizing and follicle-stimulating hormones.

Aging Source: Ensembl
Cell-cell signaling Source: ProtInc
Estrous cycle Source: Ensembl
Female pregnancy Source: Ensembl
Male sex determination Source: Ensembl
Multicellular organism development Source: ProtInc
Negative regulation of apoptotic process Source: Ensembl
Negative regulation of cell population proliferation Source: ProtInc
Negative regulation of immature T cell proliferation Source: Ensembl
Negative regulation of neuron migration Source: Ensembl
Regulation of gene expression Source: Ensembl
Regulation of ovarian follicle development Source: Ensembl
Reproduction Source: GO_Central
Response to corticosteroid Source: Ensembl
Response to ethanol Source: Ensembl
Response to lipopolysaccharide Source: Ensembl
Response to potassium ion Source: Ensembl
Response to prolactin Source: Ensembl
Response to prostaglandin E Source: Ensembl
Response to testosterone Source: Ensembl
Signal transduction Source: ProtInc

Secreted

Hypogonadotropic hypogonadism 12 with or without anosmia (HH12):
The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients carrying mutations in GNRH1 as well as in other HH-associated genes including PROKR2 and FGFR1 (PubMed:23643382). 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).