Application | Comment | Organism |
---|---|---|
medicine | LRAT mutations are likely a rare cause of Leber congenital amaurosis among patients from North America | Homo sapiens |
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 | 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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
eye | - |
Homo sapiens | - |
liver | - |
Homo sapiens | - |
retinal pigment epithelium | - |
Homo sapiens | - |
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 | Comment | Organism |
---|---|---|
lecithin retinol acyltransferase | - |
Homo sapiens |
LRAT | - |
Homo sapiens |