XB-FEAT-1000464: Difference between revisions
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=lrat= | =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 | 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] | |||
Latest revision as of 07:27, 8 August 2017
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]