PEX5

peroxisomal biogenesis factor 5

Summary

The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. 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 of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

Known Variants811 total

rsidPosition (GRCh37)AllelesClassClinVar
rs88604982112:7,342,294C/T—uncertain significance
rs88604982212:7,342,308C/G—uncertain significance
rs77033967012:7,342,310T/C—uncertain significance
rs88604982312:7,342,314G/T—uncertain significance
rs1222791712:7,342,343C/G—benign
rs79645291712:7,342,386T/C—uncertain significance
rs143762097712:7,342,411C/G—uncertain significance
rs92767310712:7,342,417G/A—uncertain significance
rs74718752112:7,342,448G/C—uncertain significance
rs14687538612:7,342,497G/A—likely benign
rs77916869112:7,342,531T/C—uncertain significance
rs18653950012:7,342,534T/C—likely benign
rs75465158912:7,342,586G/A—uncertain significance
rs93904182212:7,342,595C/T—uncertain significance
rs11744231112:7,342,619G/T—likely benign
rs11375291212:7,342,636T/A—benign
rs54209606612:7,342,684G/A—uncertain significance
rs135575060812:7,342,809A/G—uncertain significance
rs7492638812:7,342,858A/G—benign
rs37118537612:7,342,969T/C—uncertain significance
rs213587557112:7,342,974A/G—uncertain significance
rs253979651612:7,342,985G/A—likely benign
rs213587586612:7,342,988G/A—likely benign
rs124522734212:7,342,990T/C—uncertain significance
rs75570802112:7,342,991G/A—likely benign
rs119554764912:7,342,993T/C—uncertain significance
rs148866170212:7,342,997G/T—uncertain significance
rs74772550212:7,343,001G/C—uncertain significance
rs253979720212:7,343,005G/A—uncertain significance
rs78041990612:7,343,006C/T—likely benign
rs39812357112:7,343,007G/A—uncertain significance
rs194080124812:7,343,009G/A—likely benign
rs95088160212:7,343,010G/C—uncertain significance
rs194080262512:7,343,011G/T—uncertain significance
rs76833253712:7,343,014C/T—uncertain significance
rs194080467412:7,343,015C/T—likely benign
rs95179598912:7,343,017A/G—uncertain significance
rs14795831512:7,343,021G/A—conflicting classifications of pathogenicity
rs78133695912:7,343,030G/A—likely benign
rs194081152212:7,343,033C/T—likely benign
rs127730321912:7,343,035C/T—uncertain significance
rs37459036512:7,343,036C/T—likely benign
rs213587759912:7,343,037G/A—uncertain significance
rs97667687912:7,343,042C/T—likely benign
rs77094971212:7,343,048C/T—likely benign
rs253979907012:7,343,049C/T—pathogenic
rs194081865612:7,343,051G/C—uncertain significance
rs194081929212:7,343,052G/T—uncertain significance
rs213587798112:7,343,053A/G—uncertain significance
rs39812357212:7,343,054C/T—conflicting classifications of pathogenicity
rs75934586212:7,343,056A/G—uncertain significance
rs194082186112:7,343,061C/T—uncertain significance
rs76740685512:7,343,064C/T—uncertain significance
rs19052620912:7,343,065G/A—uncertain significance
rs76943282112:7,343,066G/A—likely benign
rs75323958912:7,343,072G/C—uncertain significance
rs75893684412:7,343,075A/T—likely benign
rs131468323312:7,343,076T/C—likely benign
rs213587873112:7,343,080G/C—uncertain significance
rs213587878712:7,343,086G/T—uncertain significance
rs127518831612:7,343,087C/T—likely benign
rs75193799012:7,343,088C/G—uncertain significance
rs213587902612:7,343,092G/A—pathogenic
rs213587911612:7,343,093G/C—uncertain significance
rs78141083612:7,343,094C/A—uncertain significance
rs77278604812:7,343,095C/A—uncertain significance
rs213587939412:7,343,097C/G—uncertain significance
rs253980104012:7,343,098C/G—uncertain significance
rs119964632712:7,343,099C/T—likely benign
rs93223809812:7,343,102A/G—conflicting classifications of pathogenicity
rs37299255512:7,343,104C/G—uncertain significance
rs113524012:7,343,105C/G—likely benign
rs137921623512:7,343,106C/T—uncertain significance
rs14564959312:7,343,107C/T—uncertain significance
rs76188523012:7,343,108G/C—conflicting classifications of pathogenicity
rs253980278912:7,343,122T/G—likely pathogenic
rs74934217512:7,343,124A/G—likely pathogenic
rs213588117512:7,343,126T/C—uncertain significance
rs93441208412:7,343,131T/A—likely benign
rs253980332512:7,343,133G/C—likely benign
rs123240958012:7,343,153A/G—likely benign
rs18309024412:7,343,179A/C—likely benign
rs11533931512:7,343,268T/G—likely benign
rs253981460512:7,343,464T/G—uncertain significance
rs148730461712:7,343,465C/T—likely benign
rs120825438312:7,343,466T/C—uncertain significance
rs11127780712:7,343,470T/C—likely benign
rs253981508112:7,343,471C/T—likely benign
rs213588943212:7,343,474T/C—likely benign
rs129538348812:7,343,477C/T—likely benign
rs131135533912:7,343,485C/T—uncertain significance
rs76126094012:7,343,489C/G—likely benign
rs76470096512:7,343,491A/G—uncertain significance
rs137455554712:7,343,492G/A—likely benign
rs75209781412:7,343,500G/T—uncertain significance
rs253981601612:7,343,504A/G—likely benign
rs253981607112:7,343,506C/T—uncertain significance
rs75546913312:7,343,513A/C—uncertain significance
rs37427924412:7,343,518A/G—uncertain significance
rs76794168912:7,343,519G/A—uncertain significance

Showing 100 of 811 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.