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Literature summary extracted from

  • Fourgeux, C.; Bron, A.; Acar, N.; Creuzot-Garcher, C.; Bretillon, L.
    24S-hydroxycholesterol and cholesterol-24S-hydroxylase (CYP46A1) in the retina: from cholesterol homeostasis to pathophysiology of glaucoma (2011), Chem. Phys. Lipids, 164, 496-499.
    View publication on PubMed

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
1.14.14.25 microsome
-
 Homo sapiens
-
-

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
1.14.14.25 cholesterol + [reduced NADPH-hemoprotein reductase] + H+ + O2 Homo sapiens
-
 (24S)-24-hydroxycholesterol + [oxidized NADPH-hemoprotein reductase] + H2O
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
1.14.14.25 Homo sapiens
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
1.14.14.25 retina
-
 Homo sapiens
-
1.14.14.25 retinal ganglion cell
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.14.14.25 cholesterol + [reduced NADPH-hemoprotein reductase] + H+ + O2
-
 Homo sapiens (24S)-24-hydroxycholesterol + [oxidized NADPH-hemoprotein reductase] + H2O
-
 ?

Synonyms

EC Number Synonyms Comment Organism
1.14.14.25 cholesterol-24S-hydroxylase
-
 Homo sapiens
1.14.14.25 CYP46A
-
 Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
1.14.14.25 NADPH
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
1.14.14.25 malfunction a single nucleotide polymorphism the in CYP46A1 gene, designated as rs754203, is a risk factor for glaucoma. The enzyme participates to retinal ganglion cell loss under pathophysiological conditions Homo sapiens