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
RS886039598 Health Risk Likely pathogenic —
RS1569185857 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS1926386296 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS1926403854 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS1926487809 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS1926705172 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS1926706805 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS2123654642 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS2517663308 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS2517663841 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, PEX26-related disorder
RS2517666120 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS2517666229 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS2517670770 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS2517670893 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS2517673366 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS2517673461 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS267608189 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7A (Zellweger)
RS267608190 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder
RS61752129 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder
RS61752130 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS61752133 Health Risk Pathogenic Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS62641228 Health Risk Pathogenic Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 7A (Zellweger)
RS62641229 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7A (Zellweger)
RS745763987 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS781370363 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS1184561035 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS1556586479 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS267608191 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder
RS28940308 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder
RS61752136 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS74315506 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS768272302 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
« Prev 1 2
Sign Up to Analyze Your DNA Log In