PEX26 Chromosome 22

Peroxisomal biogenesis factor 26
82 variants 82 Health Risk

Upload your DNA to see your personal genotypes for variants in PEX26.

What This Gene Does
This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2010]
Gene Info
Gene Group
Peroxins
Locus Type
gene with protein product
Location
22q11.21
Ensembl
ENSG00000215193
Associated Conditions (5)
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
PEX26-related disorder
Peroxisome biogenesis disorder
Inborn genetic diseases
Key Variants
RS1284941471
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, PEX26-related disorder
Health Risk
RS138232280
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, PEX26-related disorder
Health Risk
RS142072315
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, PEX26-related disorder
Health Risk
RS142648687
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, PEX26-related disorder
Health Risk
RS149153003
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
Health Risk
RS150895887
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
Health Risk
RS1556590594
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
Health Risk
RS1569186417
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
Health Risk
RS17851387
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, PEX26-related disorder
Health Risk
RS199668827
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, PEX26-related disorder
Health Risk
RS200880379
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
Health Risk
RS201884779
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, PEX26-related disorder
Health Risk
All Variants (82)
RSID Category Clinical Significance Conditions
RS1284941471 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, PEX26-related disorder
RS138232280 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, PEX26-related disorder
RS142072315 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, PEX26-related disorder
RS142648687 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, PEX26-related disorder
RS149153003 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS150895887 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS1556590594 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS1569186417 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS17851387 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, PEX26-related disorder
RS199668827 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, PEX26-related disorder
RS200880379 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS201884779 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, PEX26-related disorder
RS2517666052 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS34194489 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, PEX26-related disorder
RS368118099 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, PEX26-related disorder
RS372621690 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS374290931 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS374381444 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS375516973 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS398124339 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS45567240 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS61752132 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder
RS61752134 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS61752135 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS749533743 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS751507771 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS759864013 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS764244307 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS767742108 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, PEX26-related disorder
RS770611373 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, PEX26-related disorder
RS772417180 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS775656539 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Inborn genetic diseases
RS786205556 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS794727805 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS886057245 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS904472324 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS1556589033 Health Risk Likely pathogenic —
RS1926485817 Health Risk Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7A (Zellweger)
RS1926794975 Health Risk Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS2123647622 Health Risk Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7A (Zellweger)
RS2123657331 Health Risk Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS2517662992 Health Risk Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS2517663296 Health Risk Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7A (Zellweger)
RS2517663914 Health Risk Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7A (Zellweger)
RS2517666301 Health Risk Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7A (Zellweger)
RS2517670720 Health Risk Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS2517670730 Health Risk Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7A (Zellweger)
RS2517670734 Health Risk Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7A (Zellweger)
RS2517670768 Health Risk Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7A (Zellweger)
RS2517673596 Health Risk Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7A (Zellweger)
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