Cytochrome P450, Subfamily IIR, Polypeptide 1

Alternative Names

  • CYP2R1
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OMIM Number

608713

NCBI Gene ID

120227

Uniprot ID

Q6VVX0

Length

16,599 bases

No. of Exons

9

No. of isoforms

1

Protein Name

Vitamin D 25-hydroxylase

Molecular Mass

57359 Da

Amino Acid Count

501

Genomic Location

chr11:14,877,436-14,894,034

Gene Map Locus
11p15.2

Description

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NC_000011.10:g.14900334G>A LebanonNC_000011.10:g.14900334G>AAssociation, Drug Response10766197
NG_007936.1:g.3874T>CLebanon; United Arab E...NC_000011.10:g.14893332A>GAssociation, Drug ResponseNG_007936.1:g.3874T>C10741657
NG_007936.1:g.536G>ALebanonNC_000011.10:g.14896670C>TAssociation, Drug ResponseNG_007936.1:g.536G>A1562902
NM_024514.5:c.177C>TLebanon; United Arab E...NC_000011.10:g.14892029G>ABenignAssociation, Benign, Drug ResponseNG_007936.1:g.5177C>T; NM_024514.5:c.177C>T; NP_078790.2:p.Ser59=127947141165252
NM_024514.5:c.226-2810A>CUnited Arab EmiratesNC_000011.10:g.14888727T>GNG_007936.1:g.8479A>C; NM_024514.5:c.226-2810A>C; NP_078790.2:p.?10500804
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