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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for ABCA4 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID24
Official gene symbolABCA4
Full nameATP-binding cassette, sub-family A (ABC1), member 4
Aliases,ABC10,ABCR,ARMD2,CORD3,DKFZp781N1972,FFM,FLJ17534,RMP,RP19,STGD,STGD1,
Gene summaryThe membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq]
LocationChromosome: 1   Locus: 1p22.1-p21
Gene position94586705 - 94458393  Map Viewer
Gene orientationminus
Gene size128313 bp
Gene sequence
OMIM ID601691