Cytochrome P450, Subfamily I, Polypeptide 2

Alternative Names

  • CYP1A2
  • Cytochrome P-450, Aromatic Compound-Inducible
  • Dioxin-Inducible P3-450
  • Phenacetin Metabolism, Defect In, Included
  • Phenacetin O-Deethylase, Deficiency Of, Included
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OMIM Number

124060

NCBI Gene ID

1544

Uniprot ID

P05177

Length

7,763 bases

No. of Exons

7

Protein Name

Cytochrome P450 1A2

Molecular Mass

58407 Da

Amino Acid Count

516

Genomic Location

chr15:74,748,844-74,756,606

Gene Map Locus
15q24.1

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. The protein encoded by this gene localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. Other xenobiotic substrates for this enzyme include caffeine, aflatoxin B1, and acetaminophen. The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3' untranslated region. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000761.4:c.-10+113C>TUnited Arab EmiratesNC_000015.10:g.74749010C>TNG_008431.2:g.31469C>T; NM_000761.4:c.-10+113C>T; NP_000752.2:p.?12720461
NM_000761.5:c.1042G>AUnited Arab EmiratesNC_000015.10:g.74751854G>ANG_061543.1:g.8010G>A; NM_000761.5:c.1042G>A; NP_000752.2:p.Asp348Asn56276455
NM_000761.5:c.1156A>TUnited Arab EmiratesNC_000015.10:g.74752237A>TNG_061543.1:g.8393A>T; NM_000761.5:c.1156A>T; NP_000752.2:p.Ile386Phe72547516
NM_000761.5:c.1548T>CLebanonNC_000015.10:g.74755085T>CBenignDrug ResponseBreast CancerNG_061543.1:g.11241T>C; NM_000761.5:c.1548T>C; NP_000752.2:p.Asn516=2470890768718
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