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Literature summary for 2.3.1.135 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

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

Protein Variants

Protein Variants Comment Organism
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
S175R naturally occurring missense mutation, causing recessive earlyonset severe retinal dystrophy, the mutant enzyme shows highly reduced activity Homo sapiens

Natural Substrates/ Products (Substrates)

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

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

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
lecithin retinol acyltransferase
-
Homo sapiens
LRAT
-
Homo sapiens