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Article

Identification of novel functional variants of the melanocortin 1 receptor gene originated from Asians.

Human genetics - 1 Apr 2006

Nakayama Kazuhiro, Soemantri Augustinus, Jin Feng, Dashnyam Bumbein, Ohtsuka Ryutaro, Duanchang Phaibool, Isa Mohd Nizam, Settheetham-Ishida Wannapa, Harihara Shinji, Ishida Takafumi

Abstract excerpt

Human melanocortin 1 receptor (MC1R) is a seven transmembrane G-coupled protein receptor that upregulates the cAMP pathway. Several functional variants of MC1R that show an impaired ability to activate the cAMP pathway are strongly associated with fair skin and red hair in Europeans and European descendants. The sequence variations of the MC1R gene were repeatedly investigated against worldwide populations;...

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PMID: 16463023
DOI: 10.1007/s00439-006-0141-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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