A2E

ABCA4
Identifiers
Aliases	ABCA4, AW050280, Abc10, Abcr, D430003I15Rik, RmP, ARMD2, CORD3, FFM, RP19, STGD, STGD1, ATP binding cassette subfamily A member 4
External IDs	MGI: 109424 HomoloGene: 298 GeneCards: ABCA4
Gene location (Human) Chr. Chromosome 1 (human) Band 1p22.1 Start 93,992,835 bp End 94,121,132 bp
Gene location (Mouse) Chr. Chromosome 3 (mouse) Band 3 G1|3 52.94 cM Start 122,044,443 bp End 122,180,123 bp
RNA expression pattern More reference expression data
Gene ontology Molecular function • ATPase activity, coupled to transmembrane movement of substances • nucleotide binding • transporter activity • phospholipid transporter activity • phospholipid-translocating ATPase activity • ATP binding • phosphatidylethanolamine-translocating ATPase activity • eye pigment precursor transporter activity • ATPase activity Cellular component • integral component of membrane • intracellular membrane-bounded organelle • membrane • photoreceptor outer segment • integral component of plasma membrane • photoreceptor disc membrane Biological process • response to stimulus • phospholipid transfer to membrane • retinoid metabolic process • transmembrane transport • phototransduction, visible light • photoreceptor cell maintenance • visual perception • phospholipid translocation • transport Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	24	11304
Ensembl	ENSG00000198691	ENSMUSG00000028125
UniProt	P78363	O35600
RefSeq (mRNA)	NM_000350	NM_007378
RefSeq (protein)	NP_000341	NP_031404
Location (UCSC)	Chr 1: 93.99 – 94.12 Mb	Chr 1: 122.04 – 122.18 Mb
PubMed search

24

11304

ENSG00000198691

ENSMUSG00000028125

P78363

O35600

NM_000350

NM_007378

NP_000341

NP_031404

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.

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Wikipedia