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Article

Inverse correlation between fatty acid transport protein 4 and vision in Leber congenital amaurosis associated with RPE65 mutation.

Proceedings of the National Academy of Sciences of the United States of America - 15 Dec 2020

Li Songhua, Gordon William C, Bazan Nicolas G, Jin Minghao

Abstract excerpt

Fatty acid transport protein 4 (FATP4), a transmembrane protein in the endoplasmic reticulum (ER), is a recently identified negative regulator of the ER-associated retinal pigment epithelium (RPE)65 isomerase necessary for recycling 11-cis-retinal, the light-sensitive chromophore of both rod and cone opsin visual pigments. The role of FATP4 in the disease progression of retinal dystrophies associated with RPE65...

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Identifiers

PMID: 33257550
DOI: 10.1073/pnas.2012623117
PMCID: PMC7749325

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