MOCOS

molybdenum cofactor sulfurase

Summary

This gene encodes an enzyme that sulfurates the molybdenum cofactor which is required for activation of the xanthine dehydrogenase (XDH) and aldehyde oxidase (AO) enzymes. XDH catalyzes the conversion of hypoxanthine to uric acid via xanthine, as well as the conversion of allopurinol to oxypurinol, and pyrazinamide to 5-hydroxy pyrazinamide. Mutations in this gene cause the metabolic disorder classical xanthinuria type II which is characterized by the loss of XDH/XO and AO enzyme activity, decreased levels of uric acid in the urine, increased levels of xanthine and hypoxanthine in the serum and urine, formation of xanthine stones in the urinary tract, and myositis due to tissue deposition of xanthine. [provided by RefSeq, Apr 2017]

Known Variants312 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs140350056	18:33,767,460	T/G	—	likely benign
rs11665282	18:33,767,479	G/A	—	benign
rs117090508	18:33,767,498	G/A	—	benign
rs1026277944	18:33,767,506	G/A	—	uncertain significance
rs576409195	18:33,767,509	G/C	—	uncertain significance
rs2091345848	18:33,767,510	G/C	—	uncertain significance
rs1262805938	18:33,767,516	C/T	—	uncertain significance
rs145568479	18:33,767,517	G/A	—	likely benign
rs779808561	18:33,767,542	A/T	—	uncertain significance
rs748966814	18:33,767,549	C/T	—	uncertain significance
rs1183643394	18:33,767,551	G/T	—	uncertain significance
rs2144887356	18:33,767,556	C/T	—	likely benign
rs1156588840	18:33,767,563	C/T	—	conflicting classifications of pathogenicity
rs113873219	18:33,767,568	C/A	—	benign
rs955193969	18:33,767,591	A/G	—	uncertain significance
rs2091346501	18:33,767,593	G/T	—	uncertain significance
rs2511383774	18:33,767,600	G/A	—	uncertain significance
rs759622598	18:33,767,635	C/T	—	uncertain significance
rs1278187193	18:33,767,636	G/A	—	uncertain significance
rs141031604	18:33,767,655	C/A	—	likely benign
rs373431975	18:33,767,664	T/C	—	benign
rs4267398	18:33,767,749	A/G	—	benign
rs117344546	18:33,771,443	G/A	upstream gene variant	—
rs8093132	18:33,774,950	G/A	—	benign
rs16967519	18:33,775,026	T/G	—	benign
rs773155196	18:33,775,240	G/A	—	uncertain significance
rs886037854	18:33,775,246	G/C	missense variant	pathogenic
rs2144896102	18:33,775,248	C/T	—	likely benign
rs200262581	18:33,775,281	C/T	—	likely benign
rs116981654	18:33,775,295	T/C	—	likely benign
rs2511387767	18:33,775,304	C/T	—	uncertain significance
rs375813993	18:33,775,308	T/C	—	uncertain significance
rs2511387782	18:33,775,310	G/A	—	likely pathogenic
rs2298601	18:33,775,371	G/A	—	benign
rs2298602	18:33,775,379	C/T	—	benign
rs17649254	18:33,775,455	C/A	—	benign
rs13381242	18:33,775,577	G/A	—	benign
rs73430959	18:33,778,468	C/A	—	benign
rs59942447	18:33,778,606	G/A	—	benign
rs596644	18:33,778,607	C/A	—	benign
rs2511389140	18:33,778,633	T/G	—	likely benign
rs751301860	18:33,778,641	G/T	—	likely benign
rs778824731	18:33,778,672	C/T	—	likely benign
rs890456473	18:33,778,697	A/G	—	uncertain significance
rs150451100	18:33,778,709	G/C	—	uncertain significance
rs2091400430	18:33,778,716	A/G	—	uncertain significance
rs78016862	18:33,778,813	G/A	—	benign
rs57706492	18:33,778,952	C/G	—	benign
rs8096011	18:33,779,349	G/T	—	benign
rs1568049388	18:33,779,633	G/A	—	likely benign
rs138341349	18:33,779,645	G/C	—	likely pathogenic
rs770912506	18:33,779,651	T/A	—	uncertain significance
rs149639104	18:33,779,655	G/A	—	benign
rs75201776	18:33,779,683	A/G	—	uncertain significance
rs777970237	18:33,779,700	C/T	—	likely benign
rs3744900	18:33,779,705	G/A	—	benign
rs770229881	18:33,779,708	C/T	—	uncertain significance
rs376254012	18:33,779,709	G/A	—	benign
rs368226264	18:33,779,732	A/C	—	uncertain significance
rs753616165	18:33,779,747	T/C	—	uncertain significance
rs372495692	18:33,779,754	G/C	—	uncertain significance
rs934855065	18:33,779,759	C/T	—	uncertain significance
rs141483411	18:33,779,777	G/A	—	likely benign
rs756335430	18:33,779,778	C/T	—	likely benign
rs2144900693	18:33,779,788	C/T	—	uncertain significance
rs142201209	18:33,779,793	C/T	—	likely benign
rs371822612	18:33,779,794	G/A	—	uncertain significance
rs374709636	18:33,779,802	C/T	—	likely benign
rs373748036	18:33,779,808	C/T	—	likely benign
rs646424	18:33,779,821	C/A	—	likely benign
rs373341737	18:33,779,827	G/A	—	uncertain significance
rs623053	18:33,779,855	C/T	—	benign
rs150556770	18:33,779,858	C/T	—	uncertain significance
rs779350413	18:33,779,859	G/A	—	likely benign
rs139665091	18:33,779,863	A/G	—	uncertain significance
rs1598871599	18:33,779,887	G/A	—	uncertain significance
rs149743314	18:33,779,893	C/T	—	uncertain significance
rs540967	18:33,779,896	A/G	—	benign
rs769736956	18:33,779,913	C/T	—	likely benign
rs1310664519	18:33,779,949	A/T	—	likely benign
rs2511390322	18:33,779,951	C/G	—	uncertain significance
rs766555023	18:33,779,961	C/A	—	uncertain significance
rs373636590	18:33,779,973	C/G	—	likely benign
rs2091405838	18:33,779,979	C/A	—	uncertain significance
rs758893848	18:33,779,999	A/T	—	uncertain significance
rs77632154	18:33,780,013	C/T	—	likely benign
rs1444813304	18:33,780,014	G/A	—	uncertain significance
rs623558	18:33,780,020	A/G	—	benign
rs147912484	18:33,780,023	C/T	—	uncertain significance
rs766390655	18:33,780,025	G/A	—	uncertain significance
rs141623345	18:33,780,032	C/T	—	uncertain significance
rs759723652	18:33,780,033	G/A	—	likely benign
rs765501957	18:33,780,039	G/A	—	likely benign
rs548950513	18:33,780,061	G/A	—	uncertain significance
rs61739904	18:33,780,072	C/T	—	likely benign
rs764624608	18:33,780,073	G/A	—	uncertain significance
rs745433973	18:33,780,082	T/C	—	uncertain significance
rs755811397	18:33,780,084	G/A	—	likely benign
rs1314844068	18:33,780,085	C/G	—	uncertain significance
rs774294736	18:33,780,100	G/A	—	uncertain significance

Showing 100 of 312 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.