PEX3

peroxisomal biogenesis factor 3

Summary

The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]

Known Variants333 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1389554426:143,771,933T/C—uncertain significance
rs10376883286:143,771,949G/C—uncertain significance
rs8860611296:143,771,966G/C—uncertain significance
rs1849347836:143,771,983T/C—benign
rs9937589886:143,771,994C/T—uncertain significance
rs5454823376:143,772,005G/C—uncertain significance
rs3755541736:143,772,084G/T—uncertain significance
rs1166924956:143,772,176A/G—likely benign
rs7694052676:143,772,195T/C—uncertain significance
rs12431549716:143,772,196G/A—pathogenic
rs25371724296:143,772,199A/G—uncertain significance
rs7781782656:143,772,205T/A—uncertain significance
rs7495894026:143,772,207A/C—uncertain significance
rs3678031976:143,772,230C/T—conflicting classifications of pathogenicity
rs14083323226:143,772,233C/T—likely benign
rs7640537106:143,772,236G/C—likely benign
rs7536972416:143,772,241C/T—uncertain significance
rs17797541316:143,772,249G/A—uncertain significance
rs5708311826:143,772,264C/T—likely benign
rs7796764306:143,772,265G/A—likely benign
rs14023890696:143,772,269T/C—likely benign
rs22729246:143,772,311C/T—benign
rs1460477386:143,775,863A/Gupstream gene variant—
rs5725438456:143,777,869C/T——
rs38045406:143,779,148A/Cintron variant—
rs170726446:143,779,970A/G—benign
rs1884725036:143,780,154G/A—likely benign
rs25371819286:143,780,202T/C—likely benign
rs12715813866:143,780,207T/G—likely benign
rs7587915576:143,780,210T/C—likely benign
rs5700218226:143,780,212A/T—likely benign
rs21287455206:143,780,213T/C—likely benign
rs21287455216:143,780,215A/G—likely benign
rs25371819486:143,780,216T/C—likely benign
rs17798844206:143,780,217T/A—uncertain significance
rs14202526016:143,780,218G/A—likely benign
rs14117567016:143,780,222G/T—likely pathogenic
rs25371819766:143,780,224G/A—uncertain significance
rs7651304226:143,780,236G/C—uncertain significance
rs2017189106:143,780,244T/C—conflicting classifications of pathogenicity
rs17798852156:143,780,271G/A—likely benign
rs7461520646:143,780,278G/T—likely pathogenic
rs1508413966:143,780,292C/A—likely pathogenic
rs15840030006:143,780,293A/G—uncertain significance
rs7800886616:143,780,305C/T—pathogenic
rs7471148176:143,780,306G/A—uncertain significance
rs7768314626:143,780,308C/T—pathogenic
rs1393129196:143,780,309G/A—uncertain significance
rs17798859906:143,780,312A/C—uncertain significance
rs412850156:143,780,313A/G—conflicting classifications of pathogenicity
rs21287455316:143,780,318A/G—uncertain significance
rs7626019276:143,780,331C/A—uncertain significance
rs4833527246:143,780,332C/A—uncertain significance
rs13167504766:143,780,337G/A—likely benign
rs25371821436:143,780,338A/C—uncertain significance
rs7660806686:143,780,345A/G—uncertain significance
rs1924936566:143,780,353G/A—uncertain significance
rs12073940776:143,780,367A/C—likely benign
rs5728349436:143,780,536A/T—likely benign
rs77404256:143,780,655A/G—benign
rs5412536506:143,781,578A/G——
rs5396691276:143,783,891G/A——
rs119680076:143,783,952T/C—benign
rs7491418956:143,784,033T/G—likely benign
rs17799443206:143,784,043T/G—likely benign
rs11828795236:143,784,046A/G—likely benign
rs25371869276:143,784,057G/A—likely benign
rs5613496436:143,784,059C/T—uncertain significance
rs11737534216:143,784,061A/G—uncertain significance
rs2007813166:143,784,067C/G—uncertain significance
rs7600541776:143,784,081G/A—likely benign
rs7658035886:143,784,082G/A—uncertain significance
rs352200416:143,784,092A/G—likely benign
rs1397602706:143,784,096A/G—conflicting classifications of pathogenicity
rs25371869906:143,784,097C/T—likely benign
rs15626523856:143,784,101A/G—uncertain significance
rs17799457276:143,784,106G/A—uncertain significance
rs17799458266:143,784,121C/T—likely benign
rs7778802546:143,784,123G/A—likely benign
rs7786811226:143,784,132C/T—likely benign
rs1134303426:143,784,143A/G—likely benign
rs11880654886:143,784,148A/T—likely benign
rs7603416146:143,784,150A/G—likely benign
rs94966436:143,789,040G/A—benign
rs1610686:143,789,181T/A—benign
rs12651315686:143,789,242T/C—likely benign
rs9734251166:143,789,253C/G—uncertain significance
rs7678859246:143,789,256T/C—uncertain significance
rs7529045986:143,789,258G/A—pathogenic
rs14597362996:143,789,266A/G—uncertain significance
rs25371931826:143,789,296A/G—uncertain significance
rs25371931946:143,789,303G/C—likely pathogenic
rs12293838036:143,789,308C/G—uncertain significance
rs12279174726:143,789,309C/G—likely benign
rs21287463546:143,789,322G/A—likely benign
rs93994436:143,789,580A/T—benign
rs37620006:143,792,078C/T—likely benign
rs9796360366:143,792,085T/C—likely benign
rs7749635146:143,792,089T/A—conflicting classifications of pathogenicity
rs17800653636:143,792,095A/G—uncertain significance

Showing 100 of 333 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.