LIAS

lipoic acid synthetase

Summary

The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. Localized in the mitochondrion, this iron-sulfur enzyme catalyzes the final step in the de novo pathway for the biosynthesis of lipoic acid, a potent antioxidant. The deficient expression of this enzyme has been linked to conditions such as diabetes, atherosclerosis and neonatal-onset epilepsy. Alternative splicing occurs at this locus, and several transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Aug 2020]

Known Variants351 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs73137448	4:39,460,328	G/A	—	benign
rs11550000	4:39,460,352	C/G	—	benign
rs2276889	4:39,460,413	C/A	—	likely benign
rs2276890	4:39,460,490	C/G	—	benign
rs557550245	4:39,460,508	T/C	—	likely benign
rs3821989	4:39,460,572	G/A	—	benign
rs748919573	4:39,460,693	T/C	—	likely benign
rs370817832	4:39,460,703	C/T	—	benign
rs78325971	4:39,460,706	A/T	—	benign
rs368281946	4:39,460,709	C/T	—	likely benign
rs1391242501	4:39,460,726	C/T	—	likely benign
rs139360916	4:39,460,737	A/G	—	conflicting classifications of pathogenicity
rs776691180	4:39,460,738	A/C	—	uncertain significance
rs2474985615	4:39,460,741	T/C	—	uncertain significance
rs372288500	4:39,460,742	C/G	—	uncertain significance
rs1553933562	4:39,460,744	C/T	—	likely benign
rs1299862454	4:39,460,747	C/T	—	uncertain significance
rs1401099440	4:39,460,748	G/T	—	uncertain significance
rs1250162017	4:39,460,751	G/C	—	uncertain significance
rs1473782911	4:39,460,752	C/G	—	uncertain significance
rs1744293519	4:39,460,754	G/A	—	uncertain significance
rs774040503	4:39,460,755	G/A	—	likely benign
rs761633225	4:39,460,756	G/A	—	uncertain significance
rs368786581	4:39,460,757	A/T	—	uncertain significance
rs1467308371	4:39,460,760	C/T	—	uncertain significance
rs750426614	4:39,460,761	A/G	—	likely benign
rs999105881	4:39,460,762	G/T	—	uncertain significance
rs1744295609	4:39,460,763	C/T	—	uncertain significance
rs553110956	4:39,460,764	C/A	—	likely benign
rs143267758	4:39,460,765	C/T	—	uncertain significance
rs1370681479	4:39,460,766	G/A	—	uncertain significance
rs147516123	4:39,460,768	A/T	—	conflicting classifications of pathogenicity
rs573005019	4:39,460,769	C/G	—	uncertain significance
rs1436660040	4:39,460,772	T/A	—	uncertain significance
rs1320749254	4:39,460,774	G/A	—	uncertain significance
rs1187910864	4:39,460,775	G/A	—	uncertain significance
rs184218786	4:39,460,781	G/A	—	uncertain significance
rs1263617011	4:39,460,789	G/A	—	likely benign
rs747620289	4:39,460,792	G/A	—	likely benign
rs771363108	4:39,460,794	G/A	—	likely benign
rs2687959	4:39,460,797	A/G	—	benign
rs889461254	4:39,460,800	C/T	—	likely benign
rs1321810151	4:39,460,801	G/T	—	likely benign
rs1424759183	4:39,460,802	G/T	—	likely benign
rs1458256	4:39,460,943	C/T	—	likely benign
rs2109867537	4:39,462,393	A/G	—	likely benign
rs752442762	4:39,462,394	T/C	—	likely benign
rs2474990031	4:39,462,397	A/T	—	likely benign
rs764526355	4:39,462,405	T/C	—	conflicting classifications of pathogenicity
rs751814381	4:39,462,414	T/C	—	uncertain significance
rs1744443342	4:39,462,420	G/C	—	uncertain significance
rs140921822	4:39,462,421	A/C	—	likely benign
rs539841597	4:39,462,422	T/C	—	uncertain significance
rs201996792	4:39,462,424	T/C	—	likely benign
rs529501318	4:39,462,430	C/G	—	uncertain significance
rs946086496	4:39,462,433	C/T	—	likely benign
rs768692068	4:39,462,434	C/G	—	uncertain significance
rs1744445711	4:39,462,437	G/C	—	uncertain significance
rs773069554	4:39,462,440	A/G	—	conflicting classifications of pathogenicity
rs369125654	4:39,462,444	C/T	—	uncertain significance
rs760501971	4:39,462,445	G/A	—	likely benign
rs796052701	4:39,462,453	C/T	—	uncertain significance
rs2474990234	4:39,462,457	G/A	—	likely benign
rs764858363	4:39,462,464	A/T	—	pathogenic
rs185737442	4:39,462,465	A/G	—	uncertain significance
rs2109867811	4:39,462,469	A/G	—	likely benign
rs199942447	4:39,462,472	G/T	—	uncertain significance
rs763606110	4:39,462,474	A/T	—	uncertain significance
rs750439302	4:39,462,478	C/A	—	likely benign
rs1041843537	4:39,462,484	G/T	—	uncertain significance
rs761295906	4:39,462,486	A/G	—	uncertain significance
rs377315137	4:39,462,493	A/G	—	likely benign
rs1040093656	4:39,462,502	A/G	—	likely benign
rs1184621128	4:39,462,504	A/G	—	uncertain significance
rs745864982	4:39,462,508	T/C	—	likely benign
rs1191295540	4:39,462,516	G/A	—	uncertain significance
rs2109868054	4:39,462,522	T/A	—	uncertain significance
rs1744463777	4:39,462,527	G/A	—	uncertain significance
rs766748889	4:39,462,530	A/C	—	likely benign
rs768182597	4:39,462,532	G/A	—	likely benign
rs774043170	4:39,462,534	G/C	—	uncertain significance
rs141723499	4:39,462,537	C/T	—	conflicting classifications of pathogenicity
rs1166998501	4:39,462,550	T/C	—	likely benign
rs1350478816	4:39,462,555	G/A	—	uncertain significance
rs1172950083	4:39,462,582	G/C	—	uncertain significance
rs779113995	4:39,462,583	G/A	—	likely pathogenic
rs1744469769	4:39,462,586	A/G	—	uncertain significance
rs2474990774	4:39,462,596	T/A	—	likely benign
rs1211310774	4:39,462,597	G/A	—	likely benign
rs1187790399	4:39,462,601	T/C	—	likely benign
rs74846190	4:39,462,611	G/A	—	likely benign
rs139607117	4:39,462,625	T/C	—	likely benign
rs1411417321	4:39,463,810	C/T	—	likely benign
rs2474993224	4:39,463,819	A/C	—	uncertain significance
rs2474993245	4:39,463,828	T/C	—	likely benign
rs766730917	4:39,463,831	A/G	—	likely benign
rs1744535027	4:39,463,839	A/G	—	uncertain significance
rs1560666276	4:39,463,841	A/G	—	uncertain significance
rs1230898917	4:39,463,863	A/T	—	uncertain significance
rs765478919	4:39,463,872	A/C	—	uncertain significance

Showing 100 of 351 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.