Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:RP19
gptkb:RMP ABCR |
| gptkbp:associatedWith |
gptkb:Stargardt_disease
gptkb:cone-rod_dystrophy retinitis pigmentosa |
| gptkbp:discoveredBy |
Allikmets et al.
|
| gptkbp:discoveredIn |
1997
|
| gptkbp:encodes |
ATP-binding cassette sub-family A member 4
|
| gptkbp:Entrez_Gene_ID |
24
|
| gptkbp:expressedIn |
retina
|
| gptkbp:function |
transporter protein in photoreceptor cells
|
| gptkbp:HGNC_ID |
HGNC:37
|
| https://www.w3.org/2000/01/rdf-schema#label |
ABCA4 gene
|
| gptkbp:locatedOnChromosome |
gptkb:1p22.1
chromosome 1 |
| gptkbp:mutationAssociatedWith |
visual impairment
|
| gptkbp:OMIM |
601691
|
| gptkbp:orthologInMouse |
Abca4
|
| gptkbp:proteinFamily |
gptkb:ABC_transporter_family
|
| gptkbp:UniProtID |
P78363
|
| gptkbp:bfsParent |
gptkb:Stargardt's_disease
|
| gptkbp:bfsLayer |
7
|