CYP2R1 wt Allele

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;

Details

Origin ID

C200311;

UMLS CUI

C5849151;

OMIM relation
- Cytochrome p450, subfamily iir, polypeptide 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11p15.2 [NCIt concept]
gene_is_element_in_pathway
- Steroid Hormone Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Biosynthetic Process [NCIt concept]
- Detoxification [NCIt concept]
- Intermediary Metabolic Process [NCIt concept]
- Iron Chelation [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
- Xenobiotic Metabolism [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients