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Article

Thr40 and Met122 are new partial loss-of-function natural mutations of the human melanocortin 1 receptor.

FEBS letters - 9 Nov 2001

Jiménez-Cervantes C, Germer S, González P, Sánchez J, Sánchez C O, García-Borrón J C

Abstract excerpt

Activation by melanocortins of the melanocortin 1 receptor (MC1R), expressed in epidermal melanocytes, stimulates melanogenesis. Human MC1R gene loss-of-function mutations are associated with fair skin, poor tanning and increased skin cancer risk. We identified two natural alleles: Ile40Thr, probably associated with skin types I-II, and Val122Met. Val122Met bound [(125)I][Nle(4), D-Phe(7)]-alpha-melanocyte...

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Identifiers

PMID: 11707265
DOI: 10.1016/s0014-5793(01)03025-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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