ABCD3

ATP binding cassette subfamily D member 3

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. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

Known Variants126 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs4477285	1:94,876,928	G/C	—	—
rs150616788	1:94,884,042	C/T	—	uncertain significance
rs371364095	1:94,884,043	C/T	—	likely benign
rs767019118	1:94,884,068	A/T	—	uncertain significance
rs1659115204	1:94,884,076	G/T	—	likely benign
rs1659115327	1:94,884,077	C/G	—	uncertain significance
rs121917999	1:94,884,084	G/A	missense variant	uncertain significance
rs749980366	1:94,884,088	C/T	—	likely benign
rs747232088	1:94,884,101	C/G	—	uncertain significance
rs554914466	1:94,884,114	A/T	—	uncertain significance
rs775974553	1:94,884,127	C/T	—	likely benign
rs576360944	1:94,884,131	C/T	—	uncertain significance
rs1659118668	1:94,884,133	C/T	—	likely benign
rs1659120221	1:94,884,164	T/C	—	likely benign
rs573747	1:94,893,630	G/T	—	—
rs191843549	1:94,908,278	A/G	intron variant	—
rs2100960448	1:94,924,145	T/C	—	likely benign
rs147475361	1:94,924,148	T/C	—	benign
rs754507540	1:94,924,151	T/A	—	benign
rs75418934	1:94,924,174	G/A	—	conflicting classifications of pathogenicity
rs1233197761	1:94,924,185	T/G	—	uncertain significance
rs1368747432	1:94,924,218	T/A	—	likely benign
rs2525203755	1:94,930,324	A/T	—	likely benign
rs142075958	1:94,930,338	G/T	—	benign
rs200013693	1:94,930,340	A/G	—	uncertain significance
rs2525204010	1:94,930,344	A/G	—	uncertain significance
rs16946	1:94,930,345	G/A	—	benign
rs577154008	1:94,930,351	A/C	—	likely benign
rs1054953872	1:94,930,365	A/T	—	uncertain significance
rs770641274	1:94,930,375	C/T	—	likely benign
rs776145069	1:94,930,380	G/C	—	uncertain significance
rs2525204552	1:94,930,408	C/T	—	likely benign
rs1648064350	1:94,930,434	G/A	—	uncertain significance
rs368779136	1:94,930,440	T/C	—	benign
rs201160279	1:94,933,455	C/G	—	benign
rs541543507	1:94,933,490	C/T	—	uncertain significance
rs766725060	1:94,933,492	T/C	—	likely benign
rs11558249	1:94,933,521	A/G	—	uncertain significance
rs2525219561	1:94,933,557	T/G	—	uncertain significance
rs144397556	1:94,939,311	G/A	—	likely benign
rs1474614063	1:94,939,335	C/T	—	uncertain significance
rs138378383	1:94,939,377	G/A	—	uncertain significance
rs2525255657	1:94,940,680	A/G	—	likely benign
rs148319104	1:94,940,731	G/T	—	likely benign
rs201088281	1:94,940,763	G/A	—	uncertain significance
rs141432588	1:94,940,788	G/A	—	likely benign
rs4148049	1:94,941,221	A/G	—	benign
rs1352591156	1:94,941,230	G/C	—	likely benign
rs759899265	1:94,941,269	C/T	—	likely benign
rs2525270617	1:94,943,859	A/C	—	likely benign
rs760083671	1:94,943,860	A/G	—	uncertain significance
rs368906775	1:94,943,874	G/C	—	uncertain significance
rs1189743290	1:94,943,880	G/C	—	likely benign
rs763228210	1:94,944,099	G/A	—	likely benign
rs563660571	1:94,946,011	T/C	—	benign
rs538746918	1:94,946,027	C/T	—	uncertain significance
rs2101006166	1:94,946,039	C/T	—	uncertain significance
rs749731700	1:94,946,097	G/A	—	uncertain significance
rs748539204	1:94,946,136	T/C	—	likely benign
rs540924146	1:94,946,146	C/T	—	uncertain significance
rs182429529	1:94,946,174	T/A	—	likely benign
rs149970135	1:94,948,747	T/C	—	benign
rs1302169997	1:94,948,776	A/G	—	uncertain significance
rs1397062618	1:94,948,788	G/A	—	uncertain significance
rs2525316136	1:94,953,107	C/A	—	uncertain significance
rs564987217	1:94,953,137	A/G	—	uncertain significance
rs139507691	1:94,953,157	T/C	—	benign
rs778909026	1:94,953,286	G/A	—	uncertain significance
rs763218506	1:94,953,310	C/A	—	uncertain significance
rs1214023374	1:94,953,312	C/T	—	uncertain significance
rs775642799	1:94,953,313	G/A	—	uncertain significance
rs764373319	1:94,953,331	A/T	—	uncertain significance
rs866388245	1:94,953,335	G/A	—	likely benign
rs377183740	1:94,953,354	T/G	—	likely benign
rs370125125	1:94,953,359	A/G	—	uncertain significance
rs201663428	1:94,953,428	A/T	—	likely benign
rs2525319393	1:94,953,481	A/C	—	uncertain significance
rs79136386	1:94,955,258	G/C	—	benign
rs2525329350	1:94,955,345	C/T	—	uncertain significance
rs2525329510	1:94,955,364	A/G	—	uncertain significance
rs200036674	1:94,955,371	G/A	—	uncertain significance
rs746212775	1:94,955,461	A/G	—	uncertain significance
rs2525330174	1:94,955,464	G/A	—	uncertain significance
rs891756768	1:94,955,477	T/A	—	uncertain significance
rs148848670	1:94,955,483	C/T	—	uncertain significance
rs1457857990	1:94,955,485	T/G	—	uncertain significance
rs762703708	1:94,955,488	A/T	—	uncertain significance
rs202124361	1:94,955,535	C/T	—	uncertain significance
rs200472911	1:94,956,723	A/T	—	likely benign
rs535940044	1:94,956,763	C/T	—	uncertain significance
rs1258633257	1:94,956,765	C/A	—	uncertain significance
rs147293586	1:94,956,773	A/G	—	benign
rs1228341414	1:94,956,786	C/T	—	uncertain significance
rs149365004	1:94,956,791	C/T	—	likely benign
rs138261691	1:94,956,797	T/C	—	likely benign
rs1570812280	1:94,956,799	T/A	—	uncertain significance
rs77239619	1:94,964,154	T/C	—	likely benign
rs1570822502	1:94,964,163	A/G	—	likely benign
rs1464591763	1:94,964,227	C/T	—	uncertain significance
rs199961727	1:94,964,322	T/C	—	likely benign

Showing 100 of 126 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.