XB-FEAT-1000464

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Revision as of 07:27, 8 August 2017 by imported>Xenbase (→‎lrat)
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lrat

This is the community wiki page for the gene lrat please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.

nomenclature changes

08/07/2017 Human name has changed for Entrez Gene: 9227. From lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) to lecithin retinol acyltransferase

summary from NCBI

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]