BCO1 Chromosome 16

Beta-carotene oxygenase 1
1 variant 1 Health Risk

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What This Gene Does
Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative cleavage of beta,beta-carotene into two retinal molecules. [provided by RefSeq, Jul 2008]
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS141781255 Health Risk Conflicting classifications of pathogenicity
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