ABCA4

ATP binding cassette subfamily A member 4

Summary

The 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, and the gene product mediates transport of an essental molecule, all-trans-retinal aldehyde (atRAL), 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, Sep 2019]

Known Variants3,092 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37479611:94,458,421T/C—likely benign
rs5388044411:94,458,494C/G—conflicting classifications of pathogenicity
rs16589086971:94,458,509A/G—uncertain significance
rs16589101091:94,458,539G/T—uncertain significance
rs8966375851:94,458,565T/A—uncertain significance
rs7733495801:94,458,646G/A—uncertain significance
rs556654371:94,458,657T/C—conflicting classifications of pathogenicity
rs762015511:94,458,659C/T—likely benign
rs2011604331:94,458,738C/A—likely benign
rs2009466081:94,458,767G/T—likely benign
rs2004010671:94,458,770G/A—uncertain significance
rs1456340121:94,458,783G/T—uncertain significance
rs16589184321:94,458,795A/T—uncertain significance
rs16589186931:94,458,800T/C—pathogenic
rs25236027811:94,458,807G/A—likely benign
rs7494542141:94,458,815C/T—likely benign
rs7691731891:94,458,816A/G—likely benign
rs3767080721:94,458,817T/G—likely benign
rs759998811:94,458,883G/A—benign
rs171107181:94,459,000A/T—benign
rs41478721:94,461,538G/A—benign
rs66665591:94,461,637C/G—benign
rs1808720871:94,461,654A/T—likely benign
rs16589913961:94,461,656C/T—likely benign
rs9426288021:94,461,659G/A—uncertain significance
rs7748157421:94,461,660G/A—uncertain significance
rs1120056361:94,461,663A/T—pathogenic
rs7735990431:94,461,664C/T—pathogenic
rs7611342871:94,461,666T/C—uncertain significance
rs2818653841:94,461,668G/A—not provided
rs2022230561:94,461,675C/T—uncertain significance
rs3722345781:94,461,676G/A—uncertain significance
rs16589927991:94,461,679T/G—uncertain significance
rs25236094371:94,461,680G/C—likely benign
rs13370255551:94,461,686A/G—likely benign
rs2818654071:94,461,693C/T—conflicting classifications of pathogenicity
rs9983636341:94,461,694G/A—likely pathogenic
rs12834827261:94,461,696G/C—uncertain significance
rs25236095081:94,461,701C/G—likely benign
rs12243558491:94,461,706G/A—uncertain significance
rs7572123871:94,461,709G/T—uncertain significance
rs16589942541:94,461,715G/T—uncertain significance
rs66666521:94,461,717C/A—benign
rs14628974021:94,461,722A/C—likely benign
rs25236096491:94,461,734A/G—likely benign
rs25236096591:94,461,735G/T—pathogenic
rs16589950661:94,461,746A/G—likely benign
rs772930721:94,461,749C/T—likely benign
rs16589952491:94,461,750A/T—likely pathogenic
rs18007171:94,461,754A/G—benign
rs14051224371:94,461,758G/A—likely benign
rs5300393151:94,461,767G/A—likely benign
rs3751794751:94,461,770C/T—conflicting classifications of pathogenicity
rs10131561371:94,461,771G/A—likely benign
rs617485221:94,461,778G/C—benign
rs1163148071:94,461,783A/T—likely benign
rs171107361:94,462,769G/Aintron variant—
rs171107431:94,463,105G/A—benign
rs560868141:94,463,356T/C—likely benign
rs75184541:94,463,366G/C—benign
rs18006991:94,463,396G/A—likely benign
rs25236142351:94,463,408C/T—likely benign
rs617512611:94,463,416C/T—not provided
rs16590512551:94,463,424A/G—pathogenic
rs617485211:94,463,425G/C—conflicting classifications of pathogenicity
rs7795859311:94,463,428T/C—pathogenic
rs7750157761:94,463,432C/T—likely benign
rs8860447641:94,463,433T/Cmissense variantpathogenic
rs7625618201:94,463,438G/C—likely benign
rs10008167481:94,463,443A/G—uncertain significance
rs21009878811:94,463,448T/A—likely pathogenic
rs7743507161:94,463,452C/T—uncertain significance
rs18016261:94,463,453G/A—conflicting classifications of pathogenicity
rs16590528611:94,463,455T/C—uncertain significance
rs617506591:94,463,460A/G—pathogenic
rs25236145881:94,463,461G/A—likely benign
rs25236146201:94,463,465G/A—likely benign
rs25236146511:94,463,471G/A—likely benign
rs3754953521:94,463,477G/A—likely benign
rs12342824131:94,463,480G/A—uncertain significance
rs617530461:94,463,488G/Astop gainedpathogenic
rs12866265231:94,463,489G/A—likely benign
rs25236148251:94,463,492G/T—likely benign
rs7794657431:94,463,498C/T—likely benign
rs8860447631:94,463,499G/Tmissense variantpathogenic
rs13535862761:94,463,507G/A—likely benign
rs14483852911:94,463,520T/C—uncertain significance
rs12997475321:94,463,522G/A—likely benign
rs5657529591:94,463,526T/G—uncertain significance
rs25236149981:94,463,528G/A—likely benign
rs7477644661:94,463,530G/A—uncertain significance
rs12615945181:94,463,534G/A—likely benign
rs617530451:94,463,537G/Asynonymous variantpathogenic
rs25236150801:94,463,542G/C—uncertain significance
rs25236151481:94,463,558A/C—uncertain significance
rs7631087161:94,463,567G/A—conflicting classifications of pathogenicity
rs16590578711:94,463,569A/C—uncertain significance
rs9407693901:94,463,573C/T—likely benign
rs16590584381:94,463,577T/C—uncertain significance
rs21009882211:94,463,578G/A—pathogenic

Showing 100 of 3,092 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.