Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:enzyme
|
| gptkbp:associatedWith |
gptkb:Leber_congenital_amaurosis
retinitis pigmentosa |
| gptkbp:biologicalProcess |
NADP-retinol dehydrogenase activity
|
| gptkbp:catalyzes |
oxidation of all-trans-retinol to all-trans-retinal
|
| gptkbp:EC_number |
1.1.1.105
|
| gptkbp:expressedIn |
gptkb:kidney
retina liver |
| gptkbp:foundIn |
gptkb:Homo_sapiens
|
| gptkbp:function |
oxidoreductase activity
retinol dehydrogenase activity |
| gptkbp:gene |
RDH12
|
| gptkbp:HGNC_ID |
18267
|
| gptkbp:locatedOnChromosome |
chromosome 14q24.1
|
| gptkbp:location |
gptkb:endoplasmic_reticulum
|
| gptkbp:mutationAssociatedWith |
causes early-onset severe retinal dystrophy
|
| gptkbp:OMIM |
608830
|
| gptkbp:UniProtID |
Q96NR8
|
| gptkbp:bfsParent |
gptkb:RDH12_gene
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
retinol dehydrogenase 12
|