C200311Level 6
CYP2R1 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human CYP2R1 wild-type allele is located in the vicinity of 11p15.2 and is approximately 15 kb in length. This allele, which encodes vitamin D 25-hydroxylase protein, plays a role in the metabolism of vitamin D precursors and analogs. Mutations in the gene are associated with rickets due to defect in vitamin D 25-hydroxylation deficiency.
**Synonyms:** - Cytochrome P450 Family 2 Subfamily R Member 1 wt Allele - Cytochrome P450, Family 2, R1 Gene - Cytochrome P450, Family 2, Subfamily R, Polypeptide 1 Gene - Cytochrome P450, Subfamily IIR, Polypeptide 1 Gene
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Cross-system equivalences0
No cross-system equivalences mapped for this node.