Defective CYP1B1 causes Glaucoma

Stable Identifier
Homo sapiens
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Cytochrome P450 1B1 (CYP1B1) can oxidise a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics as well as activating a range of procarcinogens. A specific substrate is the female sex hormone estradiol-17beta (EST17b) which is 4-hydroxylated to 4-hydroxyestradiol-17beta 4OH-EST17b). Defects in CYP1B1 can cause glaucoma disorders such as Glaucoma 3, primary congenital, A (GLC3A; MIM:231300), Glaucoma, primary open angle (POAG; MIM:137760), Glaucoma 1, open angle, A (GLC1A; MIM:137750) and Peters anomaly (PAN; MIM:604229). These disorders cause a progressive optic neuropathy characterised by visual field defects that ultimately lead to irreversible blindness (Li et al. 2011, Sarfarazi et al. 2003, Vincent et al. 2001).
Literature References
PubMed ID Title Journal Year
14740995 Genetics and biochemistry of primary congenital glaucoma

Schenkman, JB, Stoilov, I, Sarfarazi, M

Ophthalmol Clin North Am 2003
21854771 Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma

Wei, M, Zhou, Y, Du, L, Li, N, Chen, X

Exp. Eye Res. 2011
11403040 Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly

Heathcote, G, Walter, MA, Vincent, A, Sutherland, J, Williams-Lyn, D, Priston, M, Héon, E, Billingsley, G, Levin, A, Oliver, E, Glaser, T

J. Med. Genet. 2001
Name Identifier Synonyms
glaucoma DOID:1686
primary congenital glaucoma DOID:0050593
primary open angle glaucoma DOID:1070 primary open angle glaucoma, primary Open Angle Glaucoma, chronic simple glaucoma, primary open-angle glaucoma
open-angle glaucoma DOID:1067 Open-angle glaucoma, unspecified, Open-angle glaucoma NOS (disorder), Glaucoma simplex, Pigmentary glaucoma (disorder), Pigmentary glaucoma, Open Angle Glaucoma, Open-angle glaucoma, Unspecified open-angle glaucoma (disorder), Pigmentary glaucoma, Wide-angle glaucoma NOS, Open-angle glaucoma (disorder)
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