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BCO1

Protein:

Beta-Carotene Oxygenase 1

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Beta-Carotene Oxygenase 1 (BCO1) is an enzyme which breaks down beta-carotene into retinal, a form of vitamin A, and is encoded for by the BCO1 gene 1.

Efficient vitamin A metabolism is required for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. BCO1 a key enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative cleavage of beta,beta-carotene into two retinal molecules, the first step of the pathway process 2.

Low levels of vitamin A are associated with a wide range of disorders including reductions in growth, with the diseases scurvy and rickets as particularly severe examples and increased susceptibility to infection 3.

A801T, R267S

Science Grade
B-
Immune Health
rsID Number Major Allele Minor Allele Minor Allele Frequency (%) Major Amino Acid Minor Amino Acid
rs12934922 a t 36ArgSer

Risk Description

The risk ‘T’ allele of A801T in the BCO1 gene is associated with a reduction in BCO1 enzyme activity, potentially when in association with the risk allele ‘T’ of the C1136T polymorphism. Although a reduction in activity was observed which the authors link to those with reduced levels of vitamin A no definitive link, or association with poor health outcomes has been described 4.

Direct Nutrients:*

IngredientActive IngredientEffect
Vitamin A Retinol

As low levels of vitamin A are associated with a variety of poor health outcomes, and dietary consumption may be low supplementation may be recommended. Which may prove beneficial to those carrying the risk ‘T’ allele of A801T in the BCO1 gene.

Discuss this information with your doctor before taking any course of action.

C1136T, A379V

Science Grade
B-
Immune Health
rsID Number Major Allele Minor Allele Minor Allele Frequency (%) Major Amino Acid Minor Amino Acid
rs7501331 c t 21AlaVal

Risk Description

The risk ‘T’ allele of C1136T in the BCO1 gene is associated with a reduction in BCO1 enzyme activity, potentially when in association with the risk allele ‘T’ of the A810T polymorphism as described above. Although a reduction in activity was observed, in cells cultured outside the body, which the authors link to those with reduced levels of vitamin A no definitive link, or association with poor health outcomes has been described 4.

Direct Nutrients:*

IngredientActive IngredientEffect
Vitamin A Retinol

As low levels of vitamin A are associated with a variety of poor health outcomes, and dietary consumption may be low supplementation may be recommended. Which may prove beneficial to those carrying the risk ‘T’ allele of C1136T in the BCO1 gene.

Discuss this information with your doctor before taking any course of action.

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