rs1799750
rs1799750 is a single-guanine insertion/deletion polymorphism (1G/2G) in the MMP1 promoter at position -1607 relative to the transcription start site, not a coding variant. The 2G allele creates an additional Ets transcription-factor binding site next to an adjacent AP-1 element, increasing MMP1 (interstitial collagenase-1) transcription and enzyme output, which raises the rate of type I/III collagen breakdown in the extracellular matrix. In this dataset it is used to inform skin matrix remodeling and collagen turnover.
Traits rs1799750 reads
Gene
Reference databases
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