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FLASH GENE
Symbol LRAT contributors: mct - updated : 02-01-2012
HGNC name lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
HGNC id 6685
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two putative transmembrane domains
  • HOMOLOGY
    Homologene
    FAMILY
  • H-rev107 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,endosome
    basic FUNCTION
  • catalyzing a series of reactions taking place in RPE, by which the chromophore of the visual pigments, 11-cis retinal derived from vitamin A is transformed in all-transretinyl esters
  • catalyzing the synthesis of retinyl esters in many tissues and role crucial for the transport and intracellular storage of vitamin A
  • catalyzes the esterification of all-trans retinol (vitamin A) to all-trans retinyl esters, which are the substrate for RPE65, to produce 11-cis-retinol
  • RPE65 and LRAT play key roles in recycling 11-cis-retinal in the retinal pigment epithelium (RPE)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism vitamin
    signaling sensory transduction/vision
    vitamin A
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with RPE65
  • cell & other
    REGULATION
    Other transcriptional regulation by all-trans-retinoic acid (RA) and other retinoids
    ASSOCIATED DISORDERS
    corresponding disease(s) RDSE
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • in Lrat&
  • 8722;/&
    8722; mouse, rod opsin traffics normally to ROS, whereas cone opsins accumulated in inner regions of cones
  • in the Lrat-/- model, large quantities of M and S opsins are mislocalized to the inner regions of cones, creating an extra burden on the cell