|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:CMAR
gptkb:CORD2
gptkb:LCA8
gptkb:RP12
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Leber_congenital_amaurosis
Retinitis pigmentosa
|
|
gptkbp:biologicalProcess
|
maintains photoreceptor cell polarity
prevents retinal degeneration
|
|
gptkbp:clinicalTrialPhase
|
available
|
|
gptkbp:discoveredIn
|
2001
|
|
gptkbp:encodes
|
gptkb:Crumbs_homolog_1_protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000139842
23418
|
|
gptkbp:expressedIn
|
retina
high in developing retina
|
|
gptkbp:fullName
|
gptkb:Crumbs_homolog_1
|
|
gptkbp:function
|
cell polarity
photoreceptor morphogenesis
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:2384
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CRB1 gene
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:length
|
1376 amino acids
over 200 kb
|
|
gptkbp:locatedOnChromosome
|
1
1q31.3
|
|
gptkbp:mouseModel
|
gptkb:rd8_mouse
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
frameshift
retinal dystrophy
splice-site
|
|
gptkbp:numberOfExons
|
12
|
|
gptkbp:OMIM
|
604210
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Crb1
|
|
gptkbp:orthologInZebrafish
|
gptkb:crb1a
|
|
gptkbp:pathway
|
cell adhesion
retinal development
phototransduction
|
|
gptkbp:proteinFamily
|
gptkb:Crumbs_family
EGF-like domains
laminin A G-like domains
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:subcellularLocation
|
apical membrane of photoreceptors
|
|
gptkbp:therapeuticArea
|
gene therapy
|
|
gptkbp:UniProtID
|
gptkb:P82279
|
|
gptkbp:bfsParent
|
gptkb:Leber_congenital_amaurosis
|
|
gptkbp:bfsLayer
|
6
|