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FLASH GENE

Symbol

MC1R

contributors: mct - updated : 03-02-2016

HGNC name	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
HGNC id	6929

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

HCL4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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