Statements (29)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeName |
gptkb:OTX-like_protein
cone-rod homeobox-containing gene |
gptkbp:associatedWith |
gptkb:Leber_congenital_amaurosis
gptkb:cone-rod_dystrophy retinitis pigmentosa |
gptkbp:discoveredBy |
Shiming Chen et al.
|
gptkbp:encodes |
gptkb:CRX_protein
|
gptkbp:Entrez_Gene_ID |
1406
|
gptkbp:expressedIn |
retina
|
gptkbp:firstDescribed |
1997
|
gptkbp:fullName |
cone-rod homeobox
|
gptkbp:function |
transcription factor
regulation of photoreceptor gene expression |
gptkbp:geneType |
protein-coding
|
gptkbp:HGNC_ID |
2384
|
https://www.w3.org/2000/01/rdf-schema#label |
CRX gene
|
gptkbp:locatedOnChromosome |
gptkb:chromosome_19
19q13.33 |
gptkbp:mutationAssociatedWith |
visual impairment
photoreceptor degeneration |
gptkbp:OMIM |
602225
|
gptkbp:orthologInMouse |
gptkb:Crx
|
gptkbp:regulates |
gptkb:cone_opsin_genes
gptkb:rhodopsin_gene homeobox |
gptkbp:UniProtID |
O43186
|
gptkbp:bfsParent |
gptkb:Leber_congenital_amaurosis
|
gptkbp:bfsLayer |
6
|