Cytochrome P450, Subfamily I, Polypeptide 1

Alternative Names

CYP1B1
P4501B1

Length

42,929 bases

No. of Exons

No. of isoforms

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 Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000104.3:c.1064_1076delGAGTGCAGGCAG	Saudi Arabia	chr2:38071278-38071290	Pathogenic	Pathogenic	Glaucoma 3, Primary Congenital, A	NG_008386.2:g.9812_9824delGAGTGCAGGCAGA; NM_000104.3:c.1064_1076delGAGTGCAGGCAG; NP_000095.2:p.Arg355Hisfs	72549380	282564
NM_000104.3:c.1090G>A	Morocco	NC_000002.12:g.38071264C>T	Pathogenic	Likely Pathogenic	Glaucoma 3, Primary Congenital, A	NG_008386.2:g.9838G>A ; NM_000104.3:c.1090G>A; NP_000095.2:p.Val364Met	72549379	1339668
NM_000104.3:c.1103G>A	Kuwait; Morocco; Oman;...	NC_000002.12:g.38071251C>T	Benign, Pathogenic, Uncertain Significance	Likely Pathogenic	Glaucoma 3, Primary Congenital, A	NG_008386.2:g.9851G>A ; NM_000104.3:c.1103G>A; NP_000095.2:p.Arg368His	79204362	7739
NM_000104.3:c.1120G>A	Oman; Saudi Arabia	NC_000002.12:g.38071234C>T	Pathogenic, Uncertain Significance	Likely Pathogenic	Glaucoma 3, Primary Congenital, A	NG_008386.2:g.9868G>A; NM_000104.3:c.1120G>A; NP_000095.2:p.Asp374Asn	104893622	7734
NM_000104.3:c.1162G>A	Kuwait	chr2:38071192		Likely Pathogenic	Glaucoma 3, Primary Congenital, A	NG_008386.2:g.9910G>A; NM_000104.3:c.1162G>A; NP_000095.2:p.Ala388Thr
NM_000104.3:c.1168C>A	Morocco; Saudi Arabia	chr2:38071186		Likely Pathogenic	Glaucoma 3, Primary Congenital, A	NG_008386.2:g.9916C>A; NM_000104.3:c.1168C>A; NP_000095.2:p.Arg390Ser	148542782	335952
NM_000104.3:c.1265T>C	Kuwait	chr2:38071091		Likely Benign, Pathogenic	Glaucoma 3, Primary Congenital, A	NG_008386.2:g.10013T>C; NM_000104.3:c.1265T>C; NP_000095.2:p.Val422Gly
NM_000104.3:c.1331G>A	Lebanon	chr2:38071023	Pathogenic	Likely Pathogenic	Glaucoma 3, Primary Congenital, A	NG_008386.2:g.10079G>A; NM_000104.3:c.1331G>A; NP_000095.2:p.Arg444Gln	72549376	845455
NM_000104.3:c.1379T>A	Saudi Arabia	chr2:38070975		Pathogenic	Glaucoma 3, Primary Congenital, A	NG_008386.2:g.10129T>A; NM_000104.3:c.1379T>A; NP_000095.2:p.Val460Glu
NM_000104.3:c.1405C>T	Lebanon; Morocco; Saud...	chr2:38070949	Pathogenic	Pathogenic	Glaucoma 3, Primary Congenital, A	NG_008386.2:g.10153C>T; NM_000104.3:c.1405C>T; NP_000095.2:p.Arg469Trp	28936701	7733
NM_000104.3:c.1409G>A	Morocco	chr2:38070945	Likely Pathogenic	Pathogenic	Glaucoma 3, Primary Congenital, A	NG_008386.2:g.10157G>A ; NM_000104.3:c.1409G>A; NP_000095.2:p.Cys470Tyr	104894979	96699
NM_000104.3:c.1454C>T	Saudi Arabia	chr2:38070900		Pathogenic	Glaucoma 3, Primary Congenital, A	NG_008386.2:g.10202C>T; NM_000104.3:c.1454C>T; NP_000095.2:p.Ser485Phe
NM_000104.3:c.1517_1536del	Saudi Arabia	chr2:38070818-38070838		Pathogenic	Glaucoma 3, Primary Congenital, A	NG_008386.2:g.10265_10284del; NM_000104.3:c.1517_1536del; NP_000095.2:p.Ser506Thrfs	869255198
NM_000104.3:c.1555A>G	Saudi Arabia	chr2:38070798		Pathogenic	Glaucoma 3, Primary Congenital, A	NG_008386.2:g.10304A>G ; NM_000104.3:c.1555A>G; NP_000095.2:p.Asn519Asp
NM_000104.3:c.182G>A	Kuwait; Lebanon; Moroc...	chr2:38075207	Pathogenic	Likely Pathogenic, Pathogenic	Thyroid Carcinoma, Papillary; Glaucoma 3, Primary Congenital, A	NG_008386.2:g.5895G>A ; NM_000104.3:c.182G>A; NP_000095.2:p.Gly61Glu	28936700	7730
NM_000104.3:c.230T>C	Saudi Arabia	chr2:38075159		Likely Pathogenic	Glaucoma 3, Primary Congenital, A	NG_008386.2:g.5941T>C ; NM_000104.3:c.230T>C; NP_000095.2:p.Leu77Pro
NM_000104.3:c.2T>C	Lebanon	chr2:38075387	Pathogenic	Pathogenic	Glaucoma 3, Primary Congenital, A	NG_008386.2:g.5715T>C; NM_000104.3:c.2T>C; NP_000095.2:p.Met1Thr	72549389	7736
NM_000104.3:c.442delG	Saudi Arabia	chr2:38074947		Pathogenic	Glaucoma 3, Primary Congenital, A	NG_008386.2:g.6155delG; NM_000104.3:c.442delG; NP_000095.2:p.Ala148Profs
NM_000104.3:c.487C>T	Morocco	NC_000002.12:g.38074902G>A	Uncertain Significance	Pathogenic	Glaucoma 3, Primary Congenital, A	NG_008386.2:g.6200C>T; NM_000104.3:c.487C>T ; NP_000095.2:p.Arg163Cys	104894978	96700
NM_000104.3:c.517G>A	Morocco; Saudi Arabia	NC_000002.12:g.38074872C>T	Pathogenic	Pathogenic	Glaucoma 3, Primary Congenital, A	NG_008386.2:g.6230G>A; NM_000104.3:c.517G>A; NP_000095.2:p.Glu173Lys	72481807	917724
NM_000104.3:c.535delG	Morocco	chr2:38074855	Pathogenic	Pathogenic	Glaucoma 3, Primary Congenital, A	NG_008386.2:g.6248delG ; NM_000104.3:c.535delG; NP_000095.2:p.Ala179fs	771076928	523943
NM_000104.3:c.685G>A	Lebanon; Oman	NC_000002.12:g.38074704C>T	Benign, Likely Benign, Uncertain Significance	Likely Pathogenic	Glaucoma 3, Primary Congenital, A	NG_008386.2:g.6398G>A; NM_000104.3:c.685G>A; NP_000095.2:p.Glu229Lys	57865060	68467
NM_000104.3:c.756C>A	Saudi Arabia	chr2:38074633		Pathogenic	Glaucoma 3, Primary Congenital, A	NG_008386.2:g.6469C>A; NM_000104.3:c.756C>A; NP_000095.2:p.Asn252Lys	1032806404
NM_000104.3:c.840C>A	Kuwait	NC_000002.12:g.38074549G>T	Pathogenic			NG_008386.2:g.6553C>A; NM_000104.3:c.840C>A; NP_000095.2:p.Cys280Ter	778202993	1076484
NM_000104.3:c.868dup	Saudi Arabia	NC_000002.12:g.38074526dup	Pathogenic	Pathogenic	Glaucoma 3, Primary Congenital, A	NG_008386.2:g.6581dup; NM_000104.3:c.868dup; NP_000095.2:p.Arg290ProfsTer37	587778875	68468

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External Links

http://egp.gs.washington.edu/data/cyp1b1/ http://ghr.nlm.nih.gov/gene=cyp1b1 http://www.genecards.org/cgi-bin/carddisp.pl?gene=CYP1B1 http://www.genetests.org/profiles/glc http://www.orpha.net/data/patho/GB/uk-glaucoma.pdf

Contributors

Alya Qari: 15.09.2016
Sayeeda Hana: 05.08.2016
Ameera Balobaid: 01.06.2016
Ghazi O. Tadmouri: 14.02.2015
Pratibha Nair: 03.04.2012
Tasneem Obeid: 07.04.2010
Pratibha Nair: 16.08.2006
Sarah Al-Haj Ali: 13.12.2005

Edit History

Pratibha Nair: 28.04.2019
Pratibha Nair: 18.02.2015
Pratibha Nair: 26.04.2012
Lina Walid: 13.05.2010
Tasneem Obeid: 17.04.2008
Pratibha Nair: 15.10.2006
Sarah Al-Haj Ali: 20.11.2004
Sarah Al-Haj Ali: 10.11.2004

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