| Tbio | Lecithin retinol acyltransferase |
Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters. Retinyl esters are storage forms of vitamin A. LRAT plays a critical role in vision. It provides the all-trans retinyl ester substrates for the isomerohydrolase which processes the esters into 11-cis-retinol in the retinal pigment epithelium; due to a membrane-associated alcohol dehydrogenase, 11 cis-retinol is oxidized and converted into 11-cis-retinaldehyde which is the chromophore for rhodopsin and the cone photopigments.
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]
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]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Leber congenital amaurosis | 69 | 4.523 | 2.3 |
| Chemical and Drug Induced Liver Injury | 195 | 0.0 | 0.0 |
| Eye Diseases, Hereditary | 6 | 0.0 | 0.0 |
| Leber Congenital Amaurosis 14 | 1 | 0.0 | 0.0 |
| Liver Cirrhosis, Experimental | 769 | 0.0 | 0.0 |
| Optic Atrophy, Hereditary, Leber | 14 | 0.0 | 0.0 |
| Retinitis Pigmentosa | 226 | 0.0 | 5.0 |
| Vitamin A Deficiency | 6 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| atypical teratoid/rhabdoid tumor | 357 | 9.6e-03 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Alzheimer's disease | 658 | 0.0 | 1.2 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Fundus dystrophy | 83 | 4.534 | 2.3 |
| Retinal Degeneration | 106 | 3.866 | 1.9 |
| Cone dystrophy | 71 | 3.253 | 1.6 |
