" /> CYP2R1 wt Allele - CISMeF





Preferred Label : CYP2R1 wt Allele;

NCIt synonyms : Cytochrome P450 Family 2 Subfamily R Member 1 wt Allele; Cytochrome P450, Family 2, Subfamily R, Polypeptide 1 Gene; Cytochrome P450, Subfamily IIR, Polypeptide 1 Gene; Cytochrome P450, Family 2, R1 Gene;

NCIt 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.;

NCI Metathesaurus CUI : CL1907125;

GenBank Accession Number : AY323817;

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20/05/2024


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