MLXIPL

MLX interacting protein like

Summary

This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. The gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Known Variants135 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1051943	7:73,007,606	T/C	—	benign
rs1051921	7:73,007,943	G/A	3 prime UTR variant	—
rs66489924	7:73,008,233	G/A	—	likely benign
rs782092916	7:73,008,253	C/A	—	uncertain significance
rs149935648	7:73,008,264	G/A	—	benign
rs376618696	7:73,008,616	C/T	—	likely benign
rs200316433	7:73,008,660	C/T	—	uncertain significance
rs72649012	7:73,010,005	C/T	—	benign
rs1323230829	7:73,010,025	C/T	—	uncertain significance
rs782290802	7:73,010,177	G/A	—	likely benign
rs149244334	7:73,010,191	C/T	—	likely benign
rs74447564	7:73,010,234	C/T	—	benign
rs373066193	7:73,010,307	C/T	—	likely benign
rs13247874	7:73,010,442	C/T	intron variant	—
rs2485248601	7:73,010,496	T/G	—	uncertain significance
rs370408161	7:73,010,570	C/T	—	likely benign
rs782210442	7:73,010,573	G/A	—	likely benign
rs139543215	7:73,010,589	C/T	—	uncertain significance
rs144024831	7:73,010,695	T/G	—	uncertain significance
rs376519718	7:73,010,733	C/T	—	likely benign
rs782303285	7:73,010,747	G/A	—	uncertain significance
rs377150741	7:73,010,801	G/A	—	uncertain significance
rs782745942	7:73,010,970	G/A	—	likely benign
rs202235651	7:73,010,978	C/A	—	likely benign
rs1406220939	7:73,010,980	G/C	—	uncertain significance
rs1794333389	7:73,010,983	G/C	—	uncertain significance
rs543537586	7:73,010,994	C/A	—	uncertain significance
rs375805950	7:73,011,040	G/A	—	uncertain significance
rs2485263579	7:73,011,062	G/T	—	uncertain significance
rs199616981	7:73,011,076	G/T	—	benign
rs372647137	7:73,011,185	G/A	—	benign
rs200967567	7:73,011,552	C/T	—	benign
rs1229169292	7:73,011,559	G/A	—	uncertain significance
rs200441433	7:73,011,561	G/C	—	benign
rs200391124	7:73,011,578	C/T	—	likely benign
rs530397056	7:73,011,601	G/A	—	likely benign
rs368147395	7:73,011,632	G/A	—	benign
rs563363573	7:73,011,648	G/T	—	benign
rs782056579	7:73,011,676	G/A	—	uncertain significance
rs199597960	7:73,011,687	G/A	—	likely benign
rs1455924644	7:73,011,701	T/C	—	uncertain significance
rs782420994	7:73,011,743	T/G	—	benign
rs1319583033	7:73,011,808	G/A	—	uncertain significance
rs2485283036	7:73,011,820	G/A	—	uncertain significance
rs921113235	7:73,011,863	T/C	—	uncertain significance
rs371223699	7:73,011,864	G/C	—	likely benign
rs200798784	7:73,011,880	G/A	—	uncertain significance
rs2116207797	7:73,011,895	A/T	—	uncertain significance
rs782600073	7:73,011,909	G/C	—	likely benign
rs186788005	7:73,011,917	G/C	—	likely benign
rs782414477	7:73,011,950	G/T	—	uncertain significance
rs782340951	7:73,011,961	C/T	—	uncertain significance
rs1355050653	7:73,011,962	G/A	—	uncertain significance
rs190197045	7:73,012,019	A/G	—	likely benign
rs112990540	7:73,012,020	G/T	—	benign
rs868924782	7:73,012,024	C/A	—	uncertain significance
rs35332062	7:73,012,042	G/A	missense variant	—
rs79624003	7:73,012,785	A/G	intron variant	—
rs13235543	7:73,013,901	C/T	synonymous variant	—
rs141307338	7:73,013,948	C/T	—	uncertain significance
rs781971412	7:73,013,951	C/T	—	likely benign
rs146487355	7:73,013,995	G/A	—	likely benign
rs1282736173	7:73,014,011	A/C	—	uncertain significance
rs13240065	7:73,015,369	G/A	regulatory region variant	—
rs34346326	7:73,016,181	T/C	regulatory region variant	—
rs13240994	7:73,016,862	T/C	intron variant	—
rs13226650	7:73,017,005	A/G	regulatory region variant	—
rs799158	7:73,019,074	T/C	intron variant	—
rs61010704	7:73,019,975	A/G	intron variant	—
rs6948907	7:73,020,045	T/G	—	benign
rs377597007	7:73,020,058	C/T	—	likely benign
rs2484092752	7:73,020,240	C/T	—	uncertain significance
rs61738641	7:73,020,265	C/T	—	likely benign
rs75949557	7:73,020,269	G/T	—	likely benign
rs1554597897	7:73,020,281	G/A	—	uncertain significance
rs782657506	7:73,020,302	G/A	—	uncertain significance
rs34922362	7:73,020,328	G/T	—	benign
rs3812316	7:73,020,337	C/G	missense variant	—
rs369653224	7:73,020,341	C/T	—	uncertain significance
rs782121302	7:73,020,347	C/T	—	uncertain significance
rs782778206	7:73,020,348	C/G	—	uncertain significance
rs781960833	7:73,020,349	C/G	—	likely benign
rs782365151	7:73,020,422	G/A	—	uncertain significance
rs61746652	7:73,020,440	G/A	—	benign
rs6968170	7:73,020,676	G/C	—	—
rs371731771	7:73,021,297	C/T	—	likely benign
rs138119872	7:73,021,328	T/C	—	likely benign
rs569304409	7:73,021,653	C/G	—	benign
rs200438567	7:73,021,654	C/T	—	likely benign
rs1412190186	7:73,021,719	C/G	—	uncertain significance
rs782547072	7:73,021,748	G/C	—	likely benign
rs72649026	7:73,021,912	C/T	—	likely benign
rs72649027	7:73,021,959	G/C	—	likely benign
rs1038903843	7:73,021,988	T/C	—	uncertain significance
rs77048596	7:73,022,211	G/A	regulatory region variant	—
rs13246993	7:73,022,746	G/A	regulatory region variant	—
rs12531645	7:73,023,881	G/T	—	—
rs13234131	7:73,025,975	A/G	intron variant	—
rs13234378	7:73,026,151	A/T	intron variant	—
rs17145750	7:73,026,378	C/A	—	—

Showing 100 of 135 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.