The MFSD12 p.Tyr182His common variant is sufficient to alter mouse agouti coat color.

doi:10.1111/pcmr.13144

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The MFSD12 p.Tyr182His common variant is sufficient to alter mouse agouti coat color.

Pigment cell & melanoma research - 1 Mar 2024

Watkins-Chow Dawn E, Incao Arturo A, Rivas Cecelia, Elliott Gene, Garrett Lisa J, Pavan William J

Abstract excerpt

MFSD12 functions as a transmembrane protein required for import of cysteine into melanosomes and lysosomes. The MFSD12 locus has been associated with phenotypic variation in skin color across African, Latin American, and East Asian populations. The frequency of a particular MFSD12 coding variant, rs2240751 (MAF = 0.08), has been reported to correlate with solar radiation and occur at highest frequency in Peruvian...

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PMID: 37874775
DOI: 10.1111/pcmr.13144

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