Article
Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in Brazil.
Legal medicine (Tokyo, Japan) - 1 Mar 2017
Fracasso Nádia Carolina de Aguiar, de Andrade Edilene Santos, Wiezel Cláudia Emília Vieira, Andrade Claudia Caixeta Franco, Zanão Lídia Renata, da Silva Mateus Spinelli, Marano Leonardo Arduino, Donadi Eduardo Antônio, C Castelli Erick, Simões Aguinaldo Luiz, Mendes-Junior Celso Teixeira
Abstract excerpt
The Solute Carrier Family 45, Member 2 (SLC45A2) gene encodes the Membrane-Associated Transporter Protein (MATP), which mediates melanin synthesis by tyrosinase trafficking and proton transportation to melanosomes. At least two SLC45A2 coding SNPs [E272K (rs26722) and L374F (rs16891982)] were reported influencing normal variation of human pigmentation. Here we aimed at evaluating the influence of haplotypes of 12...
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