LRAT gene

lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Leber congenital amaurosis 14
  • Retinitis pigmentosa

From UniProt:

Leber congenital amaurosis 14 (LCA14): A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. [MIM:613341]

Cytogenetic Location: 4q32.1, which is the long (q) arm of chromosome 4 at position 32.1

Molecular Location: base pairs 154,740,841 to 154,753,119 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4q32.1, which is the long (q) arm of chromosome 4 at position 32.1