| Type | Description |
|---|---|
| Definition | lecithin retinol acyltransferase |
| Date | Results | Publications |
|---|---|---|
| 2019-02-02 12:34:00 | The c.541-15T>G mutation in LRAT results in aberrant splicing and is therefore predicted to be causal for the early onset retinitis pigmentosa in this family. | 29973277 |
| 2018-07-14 10:28:00 | The genetic analysis performed on our proband showed a novel homozygous mutation on codon 119 of lecithin-cholesterol acyltransferase gene that causes the substitution of glycine by aspartate | 28942093 |
| 2017-09-02 10:49:00 | instability of LRAT(E14L) did not abrogate the production of the visual chromophore in a cell-based assay. Instead, expression of LRAT(E14L) led to a rapid increase in cellular levels of retinoic acid upon retinoid supplementation. | 28758396 |
| 2015-10-24 11:19:00 | LRAT hypermethylation was associated with decreased mRNA levels in colorectal cancer clinical specimens. | 25260806 |
| 2015-07-25 11:10:00 | lecithin retinol acyltransferase affects all-trans retinoic acid levels and has a role in retinoid sensitivity in malignant melanoma cells. | 25236354 |
| Type | IDs |
|---|---|
| Synonymous | LCA14 |
| Gene |
UniProtKB-ID:
LRAT_HUMAN
UniprotKB:
O95237
UniParc:
UPI0000072711
EMBL:
AF071510,
AY546085,
CH471056,
BC031053,
AK292598,
AY546086
Ensembl:
ENSG00000121207
KO:
hsa:9227
|
| Nucleutide sequences |
EMBL-CDS:
AAH31053.1,
AAS49413.1,
AAD13529.1,
BAF85287.1,
AAS49412.1,
EAX04904.1
Ensembl_TRS:
ENST00000336356,
ENST00000507827
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000426761,
ENSP00000337224
RefSeq:
NP_004735.2,
NP_001288574.1
|
| Others |
UniRef100:
UniRef100_O95237
UniRef90:
UniRef90_O95237
UniRef50:
UniRef50_O95237
UniGene:
Hs.658427
CCDS:
CCDS3789.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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