|
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:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
36
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ABCA4
|
|
gptkbp:inheritsFrom
|
autosomal recessive
|
|
gptkbp:length
|
50 exons
|
|
gptkbp:locatedOnChromosome
|
gptkb:1p22.1
chromosome 1
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
frameshift
splice-site
causes retinal degeneration
|
|
gptkbp:OMIM
|
601691
|
|
gptkbp:orthologInMouse
|
Abca4
|
|
gptkbp:proteinFamily
|
gptkb:ABC_transporter_family
|
|
gptkbp:relatedTo
|
visual cycle
|
|
gptkbp:UniProtID
|
P78363
|
|
gptkbp:bfsParent
|
gptkb:human_chromosome_1
gptkb:ABCA_subfamily
gptkb:cone-rod_dystrophy
|
|
gptkbp:bfsLayer
|
8
|