rs12203592
rs12203592 is a regulatory variant in intron 4 of IRF4, sitting within a melanocyte enhancer that loops to the IRF4 promoter. The derived minor T allele disrupts a binding site for the transcription factor TFAP2A, reducing IRF4 expression and, downstream, expression of tyrosinase (TYR), the rate-limiting enzyme in melanin synthesis. This reduced pigmentation pathway activity underlies the variant's association with freckling and increased skin sun sensitivity.
Traits rs12203592 reads
Gene
Reference databases
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