LHCGR wt Allele

Preferred Label : LHCGR wt Allele;

NCIt synonyms : LHR; LH/CGR; LGR2; LH/CG-R; LHRHR; LCGR; ULG5; LSH-R; HHG; Luteinizing Hormone/Choriogonadotropin Receptor wt Allele;

NCIt definition : Human LHCGR wild-type allele is located in the vicinity of 2p16.3 and is approximately 69 kb in length. This allele, which encodes lutropin-choriogonadotropic hormone receptor protein, is involved in binding luteinizing hormone and choriogonadotropin and G protein-coupled receptor signaling. Mutation of the gene is associated with luteinizing hormone resistance in females, precocious puberty in males, somatic Leydig cell adenoma with precocious puberty and Leydig cell hypoplasia with either pseudohermaphroditism or hypergonadotropic hypogonadism.;

NCI Metathesaurus CUI : CL950746;

GenBank Accession Number : NM_000233;

Details

Origin ID

C158718;

UMLS CUI

C5202678;

Automatic exact mappings (from CISMeF team)
- Gonadotropin-releasing hormone receptor [OMIM gene]
- Luteinizing hormone/choriogonadotropin receptor [OMIM gene]
- SIL1 nucleotide exchange factor [ORDO Gene]
- gonadotropin releasing hormone receptor [ORDO Gene]
- luteinizing hormone receptor activity [GO term]
- luteinizing hormone/choriogonadotropin receptor [ORDO Gene]
OMIM relation
- Luteinizing hormone/choriogonadotropin receptor [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2p16.3 [NCIt concept]
gene_is_element_in_pathway
- Arf6 Signaling Pathway [NCIt concept]
- Calcium-Mediated 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]
- Receptor Signaling [NCIt concept]
- Reproductive Process [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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