Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol MC1R contributors: mct - updated : 03-02-2016
HGNC name melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
HGNC id 6929
ASSOCIATED DISORDERS
corresponding disease(s) HCL4
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
compromises the DNA damage response (DDR) and genomic stability of melanocytes
constitutional     --low  
by human dermal fibroblasts contributes to excess collagen synthesis in keloid scars
Susceptibility
  • ephelides in childhood and solar lentigines
  • red hair and fair skin
  • cutaneous malignant melanoma (germline variants confer risk for BRAF-mutant melanoma)
  • to facial pigmented spots during aging
  • Variant & Polymorphism other
  • Arg151-Cys/Arg160-TRP/ASP294HIS strong associated with melanoma
  • variants altering melanoma cell growth and adhesion to extracellular matrix
  • variant R151C, R160W, and D294H strongly associated with red hair (decreasing MC1R cell surface expression)
  • variant RHC alleles associated with red hair, poor tanning ability, and increased skin cancer risk are partial loss-of-function forms
  • genetic variations in MC1R contribute to the acquired amount of facial pigmented spots during aging, through pathways independent of the basal melanin production
  • polymorphisms being a predisposing factor of melanoma in a southern European population with a relatively low incidence of the disease
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Mc1r is down-regulated in the skin of the Ube3a(-/-) mice