|
gptkbp:instance_of
|
gptkb:DNA
|
|
gptkbp:alias
|
ABCR
|
|
gptkbp:application
|
retinoid metabolism
|
|
gptkbp:associated_with
|
gptkb:Ophthalmology
retinal dystrophy
cone-rod dystrophy
Stargardt disease
|
|
gptkbp:breeding_range
|
1p22.1
|
|
gptkbp:clinical_trial
|
gene therapy trials
important for phototransduction
retinal implant studies
|
|
gptkbp:code
|
ATP-binding cassette transporter
|
|
gptkbp:collaborations
|
international consortiums
|
|
gptkbp:discovery_year
|
gptkb:1997
|
|
gptkbp:disease_mechanism
|
retinal pigment accumulation
|
|
gptkbp:diseases
|
fundus flavimaculatus
|
|
gptkbp:field_of_study
|
gptkb:Genetics
|
|
gptkbp:function
|
transporting retinoids
|
|
gptkbp:funding
|
gptkb:NIH
private foundations
|
|
gptkbp:genetic_diversity
|
linked to disease severity
|
|
gptkbp:genetic_studies
|
frameshift mutation
missense mutation
nonsense mutation
causes vision loss
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ABCA4
|
|
gptkbp:involved_in
|
retinal metabolism
|
|
gptkbp:is_expressed_in
|
retinal pigment epithelium
high in photoreceptors
|
|
gptkbp:is_tested_for
|
genetic testing for retinal diseases
|
|
gptkbp:located_in
|
gptkb:chromosome_1
|
|
gptkbp:model_organism
|
gptkb:mouse
gptkb:fruit
zebrafish
|
|
gptkbp:nutritional_value
|
transmembrane protein
retinal transport
|
|
gptkbp:orthologs
|
found in many vertebrates
|
|
gptkbp:pathogenic_variants
|
identified in patients
|
|
gptkbp:pathway
|
visual cycle
|
|
gptkbp:promoter
|
gptkb:ABCA4
|
|
gptkbp:public_database
|
gptkb:Ensembl
gptkb:Gen_Bank
gptkb:UCSC_Genome_Browser
OMIM
db SNP
|
|
gptkbp:publication
|
gptkb:guidelines
gptkb:conference
peer-reviewed journals
|
|
gptkbp:related_to
|
photoreceptor cells
|
|
gptkbp:research
|
whole exome sequencing
gene knockout studies
SNP analysis
ATPase activity
|
|
gptkbp:research_focus
|
gene therapy approaches
|
|
gptkbp:seed_dispersal
|
protein-coding gene
|
|
gptkbp:targets
|
gptkb:gene_therapy
|
|
gptkbp:bfsParent
|
gptkb:Leber's_congenital_amaurosis
|
|
gptkbp:bfsLayer
|
6
|