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CYP24A1, a gene that provides instructions for making the enzyme 24-hydroxylase, is involved in the catabolism of both 25(OH)VD 3 and 1,25(OH) 2 D 3, thereby limiting vitamin D receptor (VDR)/1,25(OH) 2 D 3 signaling 14
It supports mitochondrial function, which is crucial for energy generation
We identified a homozygous point mutation in the GPX4 gene, resulting in an R152H coding mutation, in three patients with Sedaghatian-type spondylometaphyseal dysplasia
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