AlphaFold predicted structure
LRAT · O95237
Mean pLDDT
83.3/ 100
Confident
230 residues
Confidence breakdown
- Very high(≥ 90)49%
- Confident(70–90)34%
- Low(50–70)6%
- Very low(< 50)12%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
LRAT
Chr 4q32.1lecithin retinol acyltransferase
- Aliases:
- LCA14
- MANE:
- ENST00000336356.4
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalRetinal disorders
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalGlaucoma (developmental)
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalOphthalmological ciliopathies
Primary ciliary disorders
Rare multisystem ciliopathy disorders
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Disease associations (Open Targets)
Leber congenital amaurosis
0.75Leber congenital amaurosis 14
0.69retinitis pigmentosa
0.63severe early-childhood-onset retinal dystrophy
0.56neurodegenerative disease
0.53Retinal dystrophy
0.50autosomal recessive retinitis pigmentosa
0.42Stargardt disease
0.39Leber congenital amaurosis 9
0.38Leber congenital amaurosis 4
0.38
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Lecithin retinol acyltransferase
Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters (PubMed:9920938). Retinyl esters are storage forms of vitamin A (Probable). LRAT plays a critical role in vision (Probable). 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 (Probable). Required for the survival of cone photoreceptors and correct rod photoreceptor cell morphology (By similarity)
Diseases associated with LRAT
Curated MONDO disease pages that list LRAT among their top associated genes.