MC1R melanocortin 1 receptor
Gene ID: 4157, updated on 3-Apr-2024Gene type: protein coding
Also known as: CMM5; MSH-R; SHEP2
- See all available tests in GTR for this gene
- Go to complete Gene record for MC1R
- Go to Variation Viewer for MC1R variants
Summary
This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. GeneReviews: Not available | |
| Genetic determinants of hair, eye and skin pigmentation in Europeans. GeneReviews: Not available | |
| Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. GeneReviews: Not available | |
| Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. GeneReviews: Not available | |
| Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma. GeneReviews: Not available | |
| Genome-wide association study identifies three loci associated with melanoma risk. GeneReviews: Not available | |
| Genome-wide association study identifies three new melanoma susceptibility loci. GeneReviews: Not available | |
| Genome-wide association study of tanning phenotype in a population of European ancestry. GeneReviews: Not available | |
| Identification of a melanoma susceptibility locus and somatic mutation in TET2. GeneReviews: Not available | |
| Increased analgesia from kappa-opioid receptor agonist, female-specific | See labs |
| Melanoma, cutaneous malignant, susceptibility to, 5 | See labs |
| Skin/hair/eye pigmentation, variation in, 2 | See labs |
| Tyrosinase-positive oculocutaneous albinism | See labs |
| Web-based, participant-driven studies yield novel genetic associations for common traits. GeneReviews: Not available |
Genomic context
- Location:
- 16q24.3
- Sequence:
- Chromosome: 16; NC_000016.10 (89918862..89920972)
- Total number of exons:
- 1
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MC1R variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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