LRAT

Chr 4

lecithin retinol acyltransferase

Also known as: LCA14

NCBI Gene: 9227 ENSG00000121207 UniProt: O95237

LRAT encodes lecithin retinol acyltransferase, which catalyzes the esterification of vitamin A (retinol) to retinyl esters in the endoplasmic reticulum, a critical step in the visual cycle that regenerates the chromophore for photoreceptors. Biallelic mutations cause autosomal recessive early-onset severe retinal dystrophy, Leber congenital amaurosis 14, and juvenile retinitis pigmentosa. The gene shows tolerance to loss-of-function variants (pLI 0.028, LOEUF 1.321), consistent with its recessive inheritance pattern.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLeber congenital amaurosis 14

Clinical highlights

Gene-disease validity (ClinGen)

inherited retinal dystrophy · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.32

LOEUF

LOF

Mechanism· G2P

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GeneReview available — LRAT