SMOX

spermine oxidase

Summary

Polyamines are ubiquitous polycationic alkylamines which include spermine, spermidine, putrescine, and agmatine. These molecules participate in a broad range of cellular functions which include cell cycle modulation, scavenging reactive oxygen species, and the control of gene expression. These molecules also play important roles in neurotransmission through their regulation of cell-surface receptor activity, involvement in intracellular signalling pathways, and their putative roles as neurotransmitters. This gene encodes an FAD-containing enzyme that catalyzes the oxidation of spermine to spermadine and secondarily produces hydrogen peroxide. Multiple transcript variants encoding different isoenzymes have been identified for this gene, some of which have failed to demonstrate significant oxidase activity on natural polyamine substrates. The characterized isoenzymes have distinctive biochemical characteristics and substrate specificities, suggesting the existence of additional levels of complexity in polyamine catabolism. [provided by RefSeq, Jul 2012]

Known Variants28 total

rsidPosition (GRCh37)AllelesClassClinVar
rs57539031620:4,135,733C/T——
rs176500620:4,136,857G/T——
rs162832320:4,136,902C/G——
rs1303829220:4,138,629C/T——
rs1108762220:4,147,075G/Tintron variant—
rs5719192420:4,148,761G/A——
rs56869261520:4,155,764G/C—uncertain significance
rs125526082320:4,155,890G/A—uncertain significance
rs197896542420:4,158,169A/G—likely benign
rs37051551020:4,158,175G/A—uncertain significance
rs77069058420:4,158,207A/G—uncertain significance
rs53841789220:4,158,964G/A——
rs11696875520:4,160,545C/Tintron variant—
rs54296504620:4,162,477C/T—uncertain significance
rs76097710920:4,162,483G/A—uncertain significance
rs146817040020:4,162,582A/G—uncertain significance
rs4561033120:4,162,700G/Aintron variant—
rs11489741220:4,162,837G/T—benign
rs76751640920:4,162,866C/T—uncertain significance
rs88778476520:4,162,979G/A—uncertain significance
rs37108869320:4,163,019A/T—uncertain significance
rs19963158920:4,163,091T/C—uncertain significance
rs251441577620:4,163,196T/C—uncertain significance
rs37671357320:4,163,201C/A—uncertain significance
rs14861022920:4,163,202G/A—uncertain significance
rs145356895820:4,163,312A/G—uncertain significance
rs14792412420:4,163,374G/T—benign
rs174132620:4,163,461C/T—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.