ABCD4

ATP binding cassette subfamily D member 4

Summary

The 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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in several protein-coding and non-protein-coding variants. [provided by RefSeq, Jul 2017]

Known Variants381 total

rsidPosition (GRCh37)AllelesClassClinVar
rs246614:74,752,902A/C—benign
rs861814:74,752,976G/A—benign
rs105202214:74,753,044T/C—benign
rs105201214:74,753,107C/G—benign
rs105200814:74,753,112C/T—benign
rs105200614:74,753,141C/T—benign
rs105752305014:74,753,159G/A—likely benign
rs76191710614:74,753,167T/C—likely benign
rs77252338814:74,753,171A/G—uncertain significance
rs147603163014:74,753,180C/G—uncertain significance
rs77360927414:74,753,191C/G—uncertain significance
rs213968948914:74,753,211G/A—uncertain significance
rs37179128914:74,753,229G/C—uncertain significance
rs55445801514:74,753,236C/T—likely benign
rs93010297514:74,753,244C/T—conflicting classifications of pathogenicity
rs77256798814:74,753,250C/T—likely benign
rs92944914:74,753,278T/C—benign
rs374280314:74,753,363G/A—benign
rs37632255514:74,753,397C/T—likely benign
rs37027022914:74,753,399G/A—benign
rs15111641714:74,753,402A/G—conflicting classifications of pathogenicity
rs77028734114:74,753,413G/C—uncertain significance
rs148042117414:74,753,416C/G—uncertain significance
rs76154232414:74,753,419C/T—likely benign
rs14328834414:74,753,420C/T—likely benign
rs77613798814:74,753,440C/T—likely benign
rs140175343114:74,753,441G/A—uncertain significance
rs13886249214:74,753,446C/A—likely benign
rs105752199914:74,753,451G/A—likely benign
rs14176634614:74,753,452C/T—likely benign
rs122240430214:74,753,460C/T—uncertain significance
rs75253965114:74,753,461G/A—likely benign
rs120407885114:74,753,465C/T—uncertain significance
rs14585397714:74,753,468T/C—uncertain significance
rs13875327414:74,753,476G/C—uncertain significance
rs213969854214:74,753,478T/C—uncertain significance
rs37719625414:74,753,525G/C—likely benign
rs20114802014:74,753,529C/T—likely benign
rs207989279014:74,753,534C/A—likely benign
rs374280214:74,753,567C/T—benign
rs414808014:74,753,665G/C—likely benign
rs801129014:74,753,706A/C—benign
rs11303447014:74,753,816T/C—likely benign
rs7406180114:74,754,503G/A—benign
rs75437047714:74,754,516C/T—uncertain significance
rs77931878014:74,754,517G/A—likely benign
rs208023568514:74,754,528G/C—uncertain significance
rs78084685514:74,754,540G/T—uncertain significance
rs76929825414:74,754,543G/A—pathogenic
rs77504819914:74,754,544G/T—likely benign
rs14269620714:74,754,560T/A—conflicting classifications of pathogenicity
rs76779558314:74,754,561G/A—pathogenic
rs55579273414:74,754,571C/T—uncertain significance
rs53459685214:74,754,572G/A—uncertain significance
rs7406180214:74,754,601T/G—benign
rs11424774214:74,754,727T/C—likely benign
rs5698661614:74,754,757A/G—benign
rs57241938414:74,754,890C/T—likely benign
rs75196872914:74,754,894C/T—likely benign
rs130144102314:74,754,897G/A—likely benign
rs14446242414:74,754,924C/T—likely benign
rs20145662514:74,754,930G/A—likely benign
rs5777315714:74,754,936G/A—benign
rs75201533014:74,754,940T/C—uncertain significance
rs116100419114:74,754,941C/G—uncertain significance
rs14029312714:74,754,949G/T—uncertain significance
rs37283811414:74,754,951C/T—likely benign
rs135439261814:74,754,966T/C—likely benign
rs37580522014:74,754,973C/G—benign
rs36889124914:74,754,980G/A—likely benign
rs55725476514:74,755,356T/C—likely benign
rs75727829614:74,755,422G/C—likely benign
rs15059425114:74,755,427C/T—likely benign
rs56151917314:74,755,430A/G—likely benign
rs74930802314:74,755,447A/G—likely benign
rs57215587814:74,755,458A/T—likely benign
rs13990158514:74,755,460C/T—conflicting classifications of pathogenicity
rs140851911114:74,755,469C/G—likely pathogenic
rs250515810514:74,755,486C/T—likely benign
rs5573704014:74,755,632T/C—benign
rs5620011814:74,755,641G/C—benign
rs6094018714:74,755,676A/G—benign
rs5580742614:74,755,677A/T—benign
rs11431789114:74,755,884T/C—benign
rs77893887914:74,756,177C/A—likely benign
rs208085382614:74,756,186C/A—pathogenic
rs37437220014:74,756,192C/T—uncertain significance
rs74727388414:74,756,193G/A—likely benign
rs94781893014:74,756,202C/A—uncertain significance
rs250523868014:74,756,204C/A—pathogenic
rs250523940614:74,756,211G/T—likely benign
rs104521125414:74,756,216A/G—uncertain significance
rs144146766414:74,756,218A/G—uncertain significance
rs76388204714:74,756,220C/A—likely benign
rs7406380414:74,756,248A/G—benign
rs7956722814:74,756,416T/C—likely benign
rs321349914:74,756,539A/G—benign
rs11489620614:74,756,547T/C—likely benign
rs321349814:74,756,603C/T—likely benign
rs11152495214:74,756,672C/G—likely benign

Showing 100 of 381 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.