- CYP24A1 breaks down the active form of vitamin D (Calcitriol).
- Although the SNP does not change the amino acid sequence, it could alter protein levels of CYP24A1.
- Mutations in human CYP24A1 have been shown to modulate the level of this enzyme in selective tissue.
- This SNP could have a functional impact on vitamin D response element binding (R).
The Major "G" allele is associated with: