O95237.2
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
Lecithin retinol acyltransferase
NCBI Official Synonym Full Names
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
NCBI Official Synonym Symbols
NCBI Protein Information
lecithin retinol acyltransferase
UniProt Protein Name
Lecithin retinol acyltransferase
UniProt Synonym Protein Names
Phosphatidylcholine--retinol O-acyltransferase
UniProt Entry Name
LRAT_HUMAN
NCBI Summary for LRAT
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]
UniProt Comments for LRAT
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: EC 2.3.1.135; Transferase; Cofactor and Vitamin Metabolism - retinol; Membrane protein, integral
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: Leber Congenital Amaurosis 14; Retinitis Pigmentosa
Research Articles on LRAT
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Products associated with anti-LRAT antibody
Pathways associated with anti-LRAT antibody
Diseases associated with anti-LRAT antibody
Disease Name |
Pubmed Publications |
Leber Congenital Amaurosis Antibodies |
>23 publications with LRAT and Leber Congenital Amaurosis |
Vitamin A Deficiency Antibodies |
>22 publications with LRAT and Vitamin A Deficiency |
Disease Models, Animal Antibodies |
>18 publications with LRAT and Disease Models, Animal |
Fatty Liver Antibodies |
>15 publications with LRAT and Fatty Liver |
Eye Diseases, Hereditary Antibodies |
>15 publications with LRAT and Eye Diseases, Hereditary |
Liver Diseases Antibodies |
>11 publications with LRAT and Liver Diseases |
Fibrosis Antibodies |
>7 publications with LRAT and Fibrosis |
Liver Cirrhosis Antibodies |
>7 publications with LRAT and Liver Cirrhosis |
Optic Atrophy, Hereditary, Leber Antibodies |
>4 publications with LRAT and Optic Atrophy, Hereditary, Leber |
Cell Transformation, Neoplastic Antibodies |
>4 publications with LRAT and Cell Transformation, Neoplastic |
Organs/Tissues associated with anti-LRAT antibody
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