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MGP006407

Record overview

MGPD IDMGP006407
Gene ID120227
SpeciesHomo sapiens (Human)
Gene Namecytochrome P450, family 2, subfamily R, polypeptide 1
Gene Symbol CYP2R1
Alternate namesvitamin D 25-hydroxylase; cytochrome P450 2R1; cytochrome P450, family 2, R1;
Chromosome11
Map Location11p15.2
EC Number1.14.13.159
SummaryThis 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. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for CYP2R1

Proteins

vitamin D 25-hydroxylase
Refseq ID:NP_078790
Protein GI:45267826
UniProt ID:Q6VVX0
mRNA ID:NM_024514
Length:501
RefSeq Status:
MWKLWRAEEGAAALGGALFLLLFALGVRQLLKQRRPMGFPPGPPGLPFIGNIYSLAASSELPHVYMRKQSQVYGEIFSLDLGGISTVVLNGYDVVKECLV
HQSEIFADRPCLPLFMKMTKMGGLLNSRYGRGWVDHRRLAVNSFRYFGYGQKSFESKILEETKFFNDAIETYKGRPFDFKQLITNAVSNITNLIIFGERF
TYEDTDFQHMIELFSENVELAASASVFLYNAFPWIGILPFGKHQQLFRNAAVVYDFLSRLIEKASVNRKPQLPQHFVDAYLDEMDQGKNDPSSTFSKENL
IFSVGELIIAGTETTTNVLRWAILFMALYPNIQGQVQKEIDLIMGPNGKPSWDDKCKMPYTEAVLHEVLRFCNIVPLGIFHATSEDAVVRGYSIPKGTTV
ITNLYSVHFDEKYWRDPEVFHPERFLDSSGYFAKKEALVPFSLGRRHCLGEHLARMEMFLFFTALLQRFHLHFPHELVPDLKPRLGMTLQPQPYLICAER
R
 
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