Gene Symbol | LRAT |
Entrez Gene ID | 9227 |
Full Name | lecithin retinol acyltransferase |
Synonyms | LCA14 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]. |
Disorder MIM: | |
Disorder Html: | Retinal dystrophy, early-onset severe, 613341 (3); Leber congenital amaurosis 14, 613341 (3); Retinitis pigmentosa, juvenile, 613341 (3) |