MC1R wt Allele

Preferred Label : MC1R wt Allele;

NCIt synonyms : Melanocortin 1 Receptor wt Allele; MSHR; SHEP2; CMM5; MSH-R; Melanocortin 1 Receptor (Alpha Melanocyte Stimulating Hormone Receptor) Gene; Alpha Melanocyte Stimulating Hormone Receptor Gene;

NCIt definition : Human MC1R wild-type allele is located in the vicinity of 16q24.3 and is approximately 17 kb in length. This allele, which encodes melanocyte-stimulating hormone receptor protein, is involved in melanocyte-stimulated hormone signaling which controls melanogenesis. Certain allelic variants of the MCR1 gene are associated with susceptibility to UV-induced skin damage and melanoma.;

GenBank Accession Number : NM_002386;

Details

Origin ID

C52084;

UMLS CUI

C1708807;

OMIM relation
- Melanocortin 1 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_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16q24.3 [NCIt concept]
gene_is_element_in_pathway
- Melanogenesis 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]
- Melanogenesis [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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