SCP2

sterol carrier protein 2

Summary

This gene encodes two proteins: sterol carrier protein X (SCPx) and sterol carrier protein 2 (SCP2), as a result of transcription initiation from 2 independently regulated promoters. The transcript initiated from the proximal promoter encodes the longer SCPx protein, and the transcript initiated from the distal promoter encodes the shorter SCP2 protein, with the 2 proteins sharing a common C-terminus. Evidence suggests that the SCPx protein is a peroxisome-associated thiolase that is involved in the oxidation of branched chain fatty acids, while the SCP2 protein is thought to be an intracellular lipid transfer protein. This gene is highly expressed in organs involved in lipid metabolism, and may play a role in Zellweger syndrome, in which cells are deficient in peroxisomes and have impaired bile acid synthesis. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms.[provided by RefSeq, Aug 2010]

Known Variants386 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs28384398	1:53,392,597	G/T	—	likely benign
rs1242331	1:53,392,908	G/A	—	benign
rs115810571	1:53,392,989	A/T	—	benign
rs140752743	1:53,393,012	C/T	—	benign
rs1652524481	1:53,393,070	T/C	—	uncertain significance
rs1244050094	1:53,393,073	C/T	—	uncertain significance
rs1488698284	1:53,393,074	C/G	—	likely benign
rs2150086298	1:53,393,076	C/T	—	uncertain significance
rs1261053889	1:53,393,079	C/G	—	uncertain significance
rs1044388788	1:53,393,081	C/G	—	uncertain significance
rs1652528472	1:53,393,082	C/T	—	uncertain significance
rs147697594	1:53,393,083	G/T	—	conflicting classifications of pathogenicity
rs780256464	1:53,393,089	G/A	—	likely benign
rs941210130	1:53,393,090	C/G	—	uncertain significance
rs755353816	1:53,393,103	G/T	—	uncertain significance
rs1283507004	1:53,393,106	G/A	—	uncertain significance
rs573557498	1:53,393,108	G/C	—	uncertain significance
rs1463646715	1:53,393,109	T/C	—	uncertain significance
rs140387282	1:53,393,123	G/C	—	uncertain significance
rs369597903	1:53,393,125	T/A	—	conflicting classifications of pathogenicity
rs1048072495	1:53,393,130	T/G	—	uncertain significance
rs149958725	1:53,393,135	A/C	—	uncertain significance
rs1381255788	1:53,393,144	C/A	—	likely benign
rs779585406	1:53,393,147	G/A	—	likely benign
rs2524351139	1:53,393,149	A/T	—	likely benign
rs373753458	1:53,393,150	G/A	—	likely benign
rs2150086479	1:53,393,151	C/T	—	likely benign
rs772389056	1:53,393,152	G/T	—	likely benign
rs2524351244	1:53,393,153	G/A	—	likely benign
rs773753117	1:53,393,155	C/G	—	likely benign
rs759019329	1:53,407,191	A/G	—	likely benign
rs112333280	1:53,407,268	A/G	—	benign
rs112730084	1:53,407,402	G/A	—	benign
rs752790329	1:53,407,422	T/A	—	likely benign
rs1031594688	1:53,407,458	A/G	—	likely benign
rs956111836	1:53,407,471	G/T	—	uncertain significance
rs2150111235	1:53,407,500	C/T	—	likely benign
rs990012354	1:53,407,502	A/G	—	uncertain significance
rs763468393	1:53,407,509	C/A	—	uncertain significance
rs2150111293	1:53,407,522	G/A	—	uncertain significance
rs2524439055	1:53,407,527	T/C	—	likely pathogenic
rs914419966	1:53,407,533	A/G	—	likely benign
rs1654283411	1:53,407,539	T/C	—	likely benign
rs78381436	1:53,407,588	A/G	—	likely benign
rs1654952630	1:53,413,666	C/G	—	likely benign
rs748464431	1:53,413,670	C/T	—	likely benign
rs758618038	1:53,413,671	G/A	—	likely benign
rs934309044	1:53,413,672	T/C	—	likely benign
rs1488662905	1:53,413,681	G/A	—	uncertain significance
rs771234357	1:53,413,687	A/G	—	uncertain significance
rs777222933	1:53,413,688	G/A	—	likely benign
rs144647557	1:53,413,689	G/A	—	uncertain significance
rs377136053	1:53,413,690	C/T	—	uncertain significance
rs1316356500	1:53,413,704	C/T	—	pathogenic
rs773719700	1:53,413,710	C/T	—	uncertain significance
rs2524480090	1:53,413,718	A/G	—	likely benign
rs2150121863	1:53,413,720	C/T	—	uncertain significance
rs1315416896	1:53,413,729	A/G	—	uncertain significance
rs1553143461	1:53,413,752	G/A	—	uncertain significance
rs1385562917	1:53,413,756	T/C	—	uncertain significance
rs748132909	1:53,413,762	A/G	—	likely benign
rs2524480579	1:53,413,769	G/A	—	likely benign
rs12041343	1:53,416,382	C/G	—	likely benign
rs2524498202	1:53,416,412	T/G	—	likely benign
rs776290575	1:53,416,421	A/G	—	likely benign
rs2524498243	1:53,416,422	T/C	—	likely benign
rs933795923	1:53,416,430	A/G	—	uncertain significance
rs1655217201	1:53,416,442	G/A	—	uncertain significance
rs2150125751	1:53,416,447	A/T	—	uncertain significance
rs138573524	1:53,416,457	A/G	—	uncertain significance
rs1378232251	1:53,416,465	T/C	—	likely benign
rs757402916	1:53,416,477	G/A	—	uncertain significance
rs200302137	1:53,416,505	A/G	—	uncertain significance
rs756441087	1:53,416,518	T/G	—	likely benign
rs2150125848	1:53,416,523	C/T	—	uncertain significance
rs1010369315	1:53,416,530	G/T	—	uncertain significance
rs1311075687	1:53,416,537	G/A	—	uncertain significance
rs760010623	1:53,416,540	C/T	—	uncertain significance
rs2524499483	1:53,416,548	G/A	—	likely benign
rs746730267	1:53,416,552	C/T	—	pathogenic
rs1479797545	1:53,416,555	G/T	—	uncertain significance
rs776292033	1:53,416,577	G/C	—	likely benign
rs35364355	1:53,416,721	A/G	—	benign
rs114812863	1:53,416,843	A/C	—	benign
rs72897396	1:53,420,101	G/A	—	benign
rs78958884	1:53,420,228	G/T	—	likely benign
rs376418700	1:53,420,389	A/G	—	likely benign
rs369392420	1:53,420,398	C/T	—	likely benign
rs373584259	1:53,420,399	G/A	—	likely benign
rs2524524869	1:53,420,400	T/C	—	likely benign
rs756478140	1:53,420,405	C/T	—	likely benign
rs780545021	1:53,420,414	G/A	—	uncertain significance
rs2150131694	1:53,420,420	G/C	—	uncertain significance
rs202234745	1:53,420,428	C/T	—	conflicting classifications of pathogenicity
rs1655642657	1:53,420,434	T/G	—	likely benign
rs2524525515	1:53,420,450	A/G	—	uncertain significance
rs926560565	1:53,420,454	G/A	—	uncertain significance
rs369066062	1:53,420,458	G/A	—	likely benign
rs2524525701	1:53,420,462	A/G	—	uncertain significance
rs1655646923	1:53,420,474	A/G	—	uncertain significance

Showing 100 of 386 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.