lecithin retinol acyltransferase gene
GPTKB entity
Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:LRAT_gene
|
| gptkbp:associatedWith |
retinitis pigmentosa
vitamin A metabolism |
| gptkbp:encodes |
lecithin retinol acyltransferase protein
|
| gptkbp:Entrez_Gene_ID |
9227
|
| gptkbp:expressedIn |
gptkb:retinal_pigment_epithelium
|
| gptkbp:function |
catalyzes the esterification of all-trans-retinol into all-trans-retinyl esters
|
| gptkbp:HGNC_ID |
HGNC:6690
|
| https://www.w3.org/2000/01/rdf-schema#label |
lecithin retinol acyltransferase gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_4
|
| gptkbp:mutationAssociatedWith |
early-onset severe retinal dystrophy
|
| gptkbp:OMIM |
604863
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologIn |
gptkb:Mus_musculus
|
| gptkbp:symbol |
LRAT
|
| gptkbp:UniProtID |
O95237
|
| gptkbp:bfsParent |
gptkb:LRAT_gene
|
| gptkbp:bfsLayer |
7
|