Gene: LRAT
Alternate names for this Gene: LCA14
Gene Summary: 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.
Gene is located in Chromosome: 4
Location in Chromosome : 4q32.1
Description of this Gene: lecithin retinol acyltransferase
Type of Gene: protein-coding
rs201825 in
LRAT gene and
Alzheimer's Disease
PMID 21460841 2011 Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
rs104893848 in
LRAT gene and
Leber Congenital Amaurosis 14
PMID 18055821 2007 Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
PMID 17011878 2006 Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.
PMID 11381255 2001 Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.