GNRHR wt Allele

Preferred Label : GNRHR wt Allele;

NCIt synonyms : LHRHR; GRHR; Gonadotropin-Releasing Hormone Receptor Gene; LRHR; HH7; GNRHR1; Gonadotropin Releasing Hormone Receptor wt Allele;

NCIt definition : Human GNRHR wild-type allele is located in the vicinity of 4q21.2 and is approximately 16 kb in length. This allele, which encodes gonadotropin-releasing hormone receptor protein, is involved in both the neuroregulatoion of reproduction and in the release of gonadotropic luteinizing hormone and follicle stimulating hormone. Defects in the gene are a cause of hypogonadotropic hypogonadism.;

GenBank Accession Number : NM_000406;

Details

Origin ID

C51454;

UMLS CUI

C1708137;

OMIM relation
- Gonadotropin-releasing hormone receptor [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Klinefelter Syndrome [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 4: 68450570-68434964 [NCIt concept]
gene_in_chromosomal_location
- 4q21.2 [NCIt concept]
gene_is_element_in_pathway
- Gonadotropin-Releasing Hormone Signaling Pathway [NCIt concept]
- Neuroactive Ligand-Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Ligand Binding [NCIt concept]
- Organogenesis [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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