The gene vdr encodes a transcriptional regulator that adjusts the expression of supplement D-dependent genetics. The proteins contains a zinc-finger DNA-binding domain, a transcriptional service domain and a ligand binding site. The health proteins is a member of the steroid and thyroid hormone receptor superfamily.
The T > C allele of the FokI polymorphism at the translation start site of vdr results in a shortened protein that lacks a practical activation area. It is characterized by decreased capturing to transcription factor IIB and reduced transactivation activity. The rate of recurrence of the variant allele differs among cultural groups. It has been implicated in variations in calcium compression, bone mineral density (BMD), and anthropometric measurements.
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