Cytochrome P450, Subfamily I, Polypeptide 1

Alternative Names

  • CYP1B1
  • P4501B1
Back to search Result
OMIM Number

601771

NCBI Gene ID

1545

Uniprot ID

Q16678

Length

42,929 bases

No. of Exons

3

No. of isoforms

1

Protein Name

Cytochrome P450 1B1

Molecular Mass

60846 Da

Amino Acid Count

543

Genomic Location

chr2:38,066,973-38,109,902

Gene Map Locus
2p22-p21

Description

The Cytochrome P450 proteins are a group of heme thiolate monooxygenases involved in the detoxification of metabolites in the body and synthesis of cholesterol, steroids and other lipids. Cytochrome P4501B1  is one of the most important members of this family of enzymes. This enzyme localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. This protein is also expressed in structures of the eye, specifically in the iris, trabecular meshwork, and ciliary body, and has been shown to be an important participant in eye development.

Mutations in the CYP1B1 gene are responsible for 20 to 40% cases of primary congenital glaucoma (PCG), as well as some cases of juvenile early-onset glaucoma. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000104.3:c.1064_1076delGAGTGCAGGCAGSaudi Arabiachr2:38071278-38071290PathogenicPathogenicGlaucoma 3, Primary Congenital, ANG_008386.2:g.9812_9824delGAGTGCAGGCAGA; NM_000104.3:c.1064_1076delGAGTGCAGGCAG; NP_000095.2:p.Arg355Hisfs72549380282564
NM_000104.3:c.1090G>AMoroccoNC_000002.12:g.38071264C>TPathogenicLikely PathogenicGlaucoma 3, Primary Congenital, ANG_008386.2:g.9838G>A ; NM_000104.3:c.1090G>A; NP_000095.2:p.Val364Met725493791339668
NM_000104.3:c.1103G>AKuwait; Morocco; Oman;...NC_000002.12:g.38071251C>TBenign, Pathogenic, Uncertain SignificanceLikely PathogenicGlaucoma 3, Primary Congenital, ANG_008386.2:g.9851G>A ; NM_000104.3:c.1103G>A; NP_000095.2:p.Arg368His792043627739
NM_000104.3:c.1120G>AOman; Saudi ArabiaNC_000002.12:g.38071234C>TPathogenic, Uncertain SignificanceLikely PathogenicGlaucoma 3, Primary Congenital, ANG_008386.2:g.9868G>A; NM_000104.3:c.1120G>A; NP_000095.2:p.Asp374Asn1048936227734
NM_000104.3:c.1162G>AKuwaitchr2:38071192Likely PathogenicGlaucoma 3, Primary Congenital, ANG_008386.2:g.9910G>A; NM_000104.3:c.1162G>A; NP_000095.2:p.Ala388Thr
NM_000104.3:c.1168C>AMorocco; Saudi Arabiachr2:38071186Likely PathogenicGlaucoma 3, Primary Congenital, ANG_008386.2:g.9916C>A; NM_000104.3:c.1168C>A; NP_000095.2:p.Arg390Ser148542782335952
NM_000104.3:c.1265T>CKuwaitchr2:38071091Likely Benign, PathogenicGlaucoma 3, Primary Congenital, ANG_008386.2:g.10013T>C; NM_000104.3:c.1265T>C; NP_000095.2:p.Val422Gly
NM_000104.3:c.1331G>ALebanonchr2:38071023PathogenicLikely PathogenicGlaucoma 3, Primary Congenital, ANG_008386.2:g.10079G>A; NM_000104.3:c.1331G>A; NP_000095.2:p.Arg444Gln72549376845455
NM_000104.3:c.1379T>ASaudi Arabiachr2:38070975PathogenicGlaucoma 3, Primary Congenital, ANG_008386.2:g.10129T>A; NM_000104.3:c.1379T>A; NP_000095.2:p.Val460Glu
NM_000104.3:c.1405C>TLebanon; Morocco; Saud...chr2:38070949PathogenicPathogenicGlaucoma 3, Primary Congenital, ANG_008386.2:g.10153C>T; NM_000104.3:c.1405C>T; NP_000095.2:p.Arg469Trp289367017733
NM_000104.3:c.1409G>AMoroccochr2:38070945Likely PathogenicPathogenicGlaucoma 3, Primary Congenital, ANG_008386.2:g.10157G>A ; NM_000104.3:c.1409G>A; NP_000095.2:p.Cys470Tyr10489497996699
NM_000104.3:c.1454C>TSaudi Arabiachr2:38070900PathogenicGlaucoma 3, Primary Congenital, ANG_008386.2:g.10202C>T; NM_000104.3:c.1454C>T; NP_000095.2:p.Ser485Phe
NM_000104.3:c.1517_1536delSaudi Arabiachr2:38070818-38070838PathogenicGlaucoma 3, Primary Congenital, ANG_008386.2:g.10265_10284del; NM_000104.3:c.1517_1536del; NP_000095.2:p.Ser506Thrfs869255198
NM_000104.3:c.1555A>GSaudi Arabiachr2:38070798PathogenicGlaucoma 3, Primary Congenital, ANG_008386.2:g.10304A>G ; NM_000104.3:c.1555A>G; NP_000095.2:p.Asn519Asp
NM_000104.3:c.182G>AKuwait; Lebanon; Moroc...chr2:38075207PathogenicLikely Pathogenic, PathogenicThyroid Carcinoma, Papillary; Glaucoma 3, Primary Congenital, ANG_008386.2:g.5895G>A ; NM_000104.3:c.182G>A; NP_000095.2:p.Gly61Glu289367007730
NM_000104.3:c.230T>CSaudi Arabiachr2:38075159Likely PathogenicGlaucoma 3, Primary Congenital, ANG_008386.2:g.5941T>C ; NM_000104.3:c.230T>C; NP_000095.2:p.Leu77Pro
NM_000104.3:c.2T>CLebanonchr2:38075387PathogenicPathogenicGlaucoma 3, Primary Congenital, ANG_008386.2:g.5715T>C; NM_000104.3:c.2T>C; NP_000095.2:p.Met1Thr725493897736
NM_000104.3:c.442delGSaudi Arabiachr2:38074947PathogenicGlaucoma 3, Primary Congenital, ANG_008386.2:g.6155delG; NM_000104.3:c.442delG; NP_000095.2:p.Ala148Profs
NM_000104.3:c.487C>T MoroccoNC_000002.12:g.38074902G>AUncertain SignificancePathogenicGlaucoma 3, Primary Congenital, ANG_008386.2:g.6200C>T; NM_000104.3:c.487C>T ; NP_000095.2:p.Arg163Cys10489497896700
NM_000104.3:c.517G>AMorocco; Saudi ArabiaNC_000002.12:g.38074872C>TPathogenicPathogenicGlaucoma 3, Primary Congenital, ANG_008386.2:g.6230G>A; NM_000104.3:c.517G>A; NP_000095.2:p.Glu173Lys72481807917724
NM_000104.3:c.535delGMoroccochr2:38074855PathogenicPathogenicGlaucoma 3, Primary Congenital, ANG_008386.2:g.6248delG ; NM_000104.3:c.535delG; NP_000095.2:p.Ala179fs771076928523943
NM_000104.3:c.685G>ALebanon; OmanNC_000002.12:g.38074704C>TBenign, Likely Benign, Uncertain SignificanceLikely PathogenicGlaucoma 3, Primary Congenital, ANG_008386.2:g.6398G>A; NM_000104.3:c.685G>A; NP_000095.2:p.Glu229Lys5786506068467
NM_000104.3:c.756C>ASaudi Arabiachr2:38074633PathogenicGlaucoma 3, Primary Congenital, ANG_008386.2:g.6469C>A; NM_000104.3:c.756C>A; NP_000095.2:p.Asn252Lys1032806404
NM_000104.3:c.840C>AKuwaitNC_000002.12:g.38074549G>TPathogenicNG_008386.2:g.6553C>A; NM_000104.3:c.840C>A; NP_000095.2:p.Cys280Ter7782029931076484
NM_000104.3:c.868dupSaudi ArabiaNC_000002.12:g.38074526dupPathogenicPathogenicGlaucoma 3, Primary Congenital, ANG_008386.2:g.6581dup; NM_000104.3:c.868dup; NP_000095.2:p.Arg290ProfsTer3758777887568468
© CAGS 2024. All rights reserved.