| Protein Name | lecithin retinol acyltransferase |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 9227 |
| Gene Symbol | LRAT |
| UniProt | O95237 (LRAT_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
67
Total Number of Articles : 89 |
Description |
lecithin retinol acyltransferase |
| Gene 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] |
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