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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
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