LRAT Antibody – Rabbit Polyclonal

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]

LRAT: 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. Defects in LRAT are a cause of Leber congenital amaurosis type 14 (LCA14). It is 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. Belongs to the H-rev107 family.

Protein type: Transferase; EC 2.3.1.135; Membrane protein, integral; Cofactor and Vitamin Metabolism - retinol

Chromosomal Location of Human Ortholog: 4q32.1

Cellular Component: multivesicular body; endoplasmic reticulum membrane; rough endoplasmic reticulum; perinuclear region of cytoplasm; integral to membrane

Molecular Function: retinoic acid binding; transferase activity, transferring acyl groups; retinol binding; phosphatidylcholine-retinol O-acyltransferase activity

Biological Process: positive regulation of lipid transport; phototransduction, visible light; visual perception; retinol metabolic process; retinoic acid metabolic process; retinoid metabolic process; vitamin A metabolic process

Disease: Retinitis Pigmentosa; Leber Congenital Amaurosis 14