MC4R wt Allele

Preferred Label : MC4R wt Allele;

NCIt synonyms : Melanocortin 4 Receptor wt Allele;

NCIt definition : Human MC4R wild-type allele is located in the vicinity of 18q22 and is approximately 2 kb in length. This allele, which encodes melanocortin receptor 4 protein, is involved in ligand-stimulated signaling. Mutation of the gene is associated with autosomal dominant obesity.;

NCIt note : The human MC4R gene is an intronless gene.;

NCI Metathesaurus CUI : CL514303;

GenBank Accession Number : AY236539;

Details

Origin ID

C131299;

UMLS CUI

C4330598;

OMIM relation
- Melanocortin 4 receptor [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 18q22.1 [NCIt concept]
gene_is_element_in_pathway
- Neuroactive Ligand-Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Energy Metabolism Process [NCIt concept]
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Generalized Growth [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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