rs7501331
rs7501331 is a missense variant in BCO1 (beta-carotene oxygenase 1, also called BCMO1), producing the A379V amino-acid substitution in the enzyme that cleaves dietary beta-carotene into retinal (vitamin A). The minor T allele reduces enzymatic conversion efficiency by roughly 32%, an effect that becomes more pronounced (up to ~70% reduction) when combined with the BCO1 rs12934922 variant. This makes it a determinant of how efficiently plant-based provitamin A carotenoids are converted into active vitamin A.
Traits rs7501331 reads
Gene
Reference databases
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