Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:lecithin_retinol_acyltransferase_gene
|
| gptkbp:associatedWith |
retinitis pigmentosa
|
| gptkbp:encodes |
gptkb:lecithin_retinol_acyltransferase
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000138061
9227 GC04P157282 |
| gptkbp:expressedIn |
gptkb:retinal_pigment_epithelium
|
| gptkbp:function |
catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester
|
| gptkbp:HGNC_ID |
HGNC:6690
|
| https://www.w3.org/2000/01/rdf-schema#label |
LRAT gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_4
4q32.1 |
| gptkbp:mutationAssociatedWith |
early-onset severe retinal dystrophy
|
| gptkbp:OMIM |
604863
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Lrat
|
| gptkbp:pathway |
retinol metabolism
|
| gptkbp:proteinFamily |
gptkb:lecithin_retinol_acyltransferase_family
|
| gptkbp:RefSeq |
gptkb:NM_004744
|
| gptkbp:UniProtID |
O95237
|
| gptkbp:bfsParent |
gptkb:Leber_congenital_amaurosis
|
| gptkbp:bfsLayer |
6
|