Literature summary for 1.14.14.25 extracted from

Fourgeux, C.; Martine, L.; Bjoerkhem, I.; Diczfalusy, U.; Joffre, C.; Acar, N.; Creuzot-Garcher, C.; Bron, A.; Bretillon, L.
Primary open angle glaucoma: Association with cholesterol 24S-hydroxylase (CYP46A1) gene polymorphism and pPlasma 24-hydroxycholesterol levels (2009), Invest. Ophthalmol. Vis. Sci., 50, 5712-5717.

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Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
retina	neuronal part	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
cholesterol 24S-hydroxylase	-	Homo sapiens
CYP46A1	-	Homo sapiens

General Information

General Information	Comment	Organism
physiological function	the rs754203 SNP in CYP46A1 is associated with a risk for primary open angle glaucoma. Frequency of the TT-genotype and T-allele in the CYP46A1 intron 2 rs754203 polymorphism is significantly higher in the population of primary open angle glaucom patients compared to control group	Homo sapiens

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Release 2023.1 (January 2023)