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Literature summary extracted from

  • Sweeney, M.O.; McGee, T.L.; Berson, E.L.; Dryja, T.P.
    Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa (2007), Mol. Vis., 13, 588-593.
    View publication on PubMedView publication on EuropePMC

Application

EC Number Application Comment Organism
2.3.1.135 medicine LRAT mutations are likely a rare cause of Leber congenital amaurosis among patients from North America Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
2.3.1.135 additional information screening for and analysis of naturally occurring mutants, low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa, overview Homo sapiens
2.3.1.135 S175R naturally occurring missense mutation, causing recessive earlyonset severe retinal dystrophy, the mutant enzyme shows highly reduced activity Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
2.3.1.135 lecithin + retinol-[cellular retinol-binding protein] Homo sapiens
-
 2-acylglycerophosphocholine + retinyl ester-[cellular retinol-binding protein]
-
 ?
2.3.1.135 additional information Homo sapiens low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa ?
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
2.3.1.135 Homo sapiens
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
2.3.1.135 eye
-
 Homo sapiens
-
2.3.1.135 liver
-
 Homo sapiens
-
2.3.1.135 retinal pigment epithelium
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
2.3.1.135 lecithin + retinol-[cellular retinol-binding protein]
-
 Homo sapiens 2-acylglycerophosphocholine + retinyl ester-[cellular retinol-binding protein]
-
 ?
2.3.1.135 additional information low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa Homo sapiens ?
-
 ?

Synonyms

EC Number Synonyms Comment Organism
2.3.1.135 lecithin retinol acyltransferase
-
 Homo sapiens
2.3.1.135 LRAT
-
 Homo sapiens