ABCA4

ABCA4
Identifiers
Aliases	ABCA4, AW050280, Abc10, Abcr, D430003I15Rik, RmP, ARMD2, CORD3, FFM, RP19, STGD, STGD1, ATP binding cassette subfamily A member 4
External IDs	OMIM: 601691; MGI: 109424; HomoloGene: 298; GeneCards: ABCA4; OMA:ABCA4 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	94,121,148 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	121,973,772 bp
RNA expression pattern
	Top expressed in
	retinal pigment epithelium; ; gonad; ; testicle; ; right uterine tube; ; Epithelium of choroid plexus; ; tail of epididymis; ; corpus epididymis; ; right lobe of liver; ; skin of abdomen; ; jejunal mucosa;
	Top expressed in
	neural layer of retina; ; choroid plexus of fourth ventricle; ; Epithelium of choroid plexus; ; retinal pigment epithelium; ; epithelium of lens; ; ciliary body; ; iris; ; pineal gland; ; corneal stroma; ; tail of embryo;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	ATPase-coupled transmembrane transporter activity; nucleotide binding; phospholipid transporter activity; ATPase-coupled intramembrane lipid transporter activity; ATP binding; phosphatidylethanolamine flippase activity; ATPase activity; transporter activity; lipid transporter activity;
Cellular component	integral component of membrane; intracellular membrane-bounded organelle; membrane; photoreceptor outer segment; integral component of plasma membrane; photoreceptor disc membrane; endoplasmic reticulum;
Biological process	response to stimulus; phospholipid transfer to membrane; retinoid metabolic process; phototransduction, visible light; photoreceptor cell maintenance; visual perception; phospholipid translocation; lipid transport; transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	24
	11304
	ENSG00000198691
	ENSMUSG00000028125
	P78363
	O35600
	NM_000350
	NM_007378
	NP_000341
	NP_031404
	Wikidata
View/Edit Human	View/Edit Mouse

ATP-binding cassette, sub-family A (ABC1), member 4, also known as ABCA4 or ABCR, is a protein which in humans is encoded by the ABCA4 gene.

ABCA4 is a member of the ATP-binding cassette transporter gene sub-family A (ABC1) found exclusively in multicellular eukaryotes. The gene was first cloned and characterized in 1997 as a gene that causes Stargardt disease, an autosomal recessive disease that causes macular degeneration. The ABCA4 gene transcribes a large retina-specific protein with two transmembrane domains (TMD), two glycosylated extracellular domains (ECD), and two nucleotide-binding domains (NBD). The ABCA4 protein is almost exclusively expressed in retina localizing in outer segment disk edges of rod photoreceptors.