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Article

Altered cell surface expression of human MC1R variant receptor alleles associated with red hair and skin cancer risk.

Human molecular genetics - 1 Aug 2005

Beaumont Kimberley A, Newton Richard A, Smit Darren J, Leonard J Helen, Stow Jennifer L, Sturm Richard A

Abstract excerpt

The human melanocortin-1 receptor gene (MC1R) encodes a G-protein coupled receptor that is primarily expressed on melanocytes, where it plays a key role in pigmentation regulation. Variant alleles are associated with red hair colour and fair skin, known as the RHC phenotype, as well as skin cancer risk. The R151C, R160W and D294H alleles, designated 'R', are strongly associated with the RHC phenotype and have...

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Identifiers

PMID: 15972726
DOI: 10.1093/hmg/ddi219

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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