EC Number   |
Protein Variants |
Reference |
|---|
   2.3.1.135 | more |
gene Lrat disruption by targeted recombination for generation of a homozygous knockout mutant, the mutant mice develop normally, but the rod outer segments in the retina are about 35% shorter than those of wild-type mice, rod and cone visual functions are severely attenuated at an early age |
659309 |
| 2.3.1.135 | more |
generation of a transgenic reporter mouse expressing green fluorescence protein under the control of region containing -1166 bps from promoter upstream from the putative transcriptional start site of LRAT and 262 bps downstream of this start. Transgenic reporter mice exhibit specific expression in eyes and testes |
736951 |
| 2.3.1.135 | more |
human and mouse enzyme differ in residue 173. A significant difference is observed between the intrinsic fluorescence emission as well as between the circular dichroism spectra of a truncated mouse LRAT (R173) and truncated human LRAT (P173). Truncated mouse LRAT is less thermostable than truncated human LRAT |
755984 |
| 2.3.1.135 | more |
human and mouse enzyme differ in residue 173. A significant difference is observed between the intrinsic fluorescence emission as well as between the circular dichroism spectra of a truncated mouse LRAT (R173) and truncated human LRAT (P173). Truncated mouse LRAT is less thermostable than truncated human LRAT and displays lower catalytic activity |
755984 |
| 2.3.1.135 | more |
retinoid absorption and storage is impaired in mice lacking lecithin:retinol acyltransferase, Lrat-deficient mice possess only trace amounts of retinyl esters in liver, lung, and kidney, intestinal absorption of retinol is impaired in the absence of LRAT, they possess 23fold elevated concentrations of retinyl esters in adipose tissue compared with wild type mice, they show 3-4fold upregulation in the level of cytosolic retinol-binding protein type III in adipose tissue, and a striking total absence of large lipid-containing droplets that normally store hepatic retinoid within the hepatic stellate cells, despite the absence of significant retinyl ester stores and stellate cell lipid droplets, the livers of Lrat-/- mice upon histologic analysis appear normal and show no histological signs of liver fibrosis, Lra-/- mice absorb dietary retinol primarily as free retinol in chylomicrons, phenotype, overview |
674487 |
| 2.3.1.135 | more |
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 |
676112 |
| 2.3.1.135 | more |
siRNA knockdown of LRAT and RPE65 expression |
715720 |
| 2.3.1.135 | P173L |
mutation caused night blindness in a patient. The enzymatic activity of truncated mutant P173L LRAT is 6.3fold lower compared to that of truncated wild-type (P173) |
755984 |
| 2.3.1.135 | S175R |
naturally occurring missense mutation, causing recessive earlyonset severe retinal dystrophy, the mutant enzyme shows highly reduced activity |
676112 |
| 2.3.1.135 | S175R |
site-directed mutagenesis, the mutation in the truncated LRAT results in an inactive enzyme. The S175R mutation has no effect on the membrane binding properties of tLRAT, the global secondary structure of tLRAT remains almost unchanged with the S175R mutation. The loss of enzymatic activity associated with the S175R mutant is related to loss of an essential nucleophile near the active site, or alternatively to steric obstruction of the active site that impedes substrate binding |
719418 |
