PEX13 Chromosome 2
Peroxisomal biogenesis factor 13
Upload your DNA to see your personal genotypes for variants in PEX13.
What This Gene Does
This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
Peroxins
Locus Type
gene with protein product
Location
2p15
Ensembl
ENSG00000162928
Associated Conditions (5)
Peroxisome biogenesis disorder 11A (Zellweger)
Peroxisome biogenesis disorder 11B
PEX13-related disorder
Peroxisome biogenesis disorder
Inborn genetic diseases
Key Variants
RS1002699754
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
Health Risk
RS1162525817
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
Health Risk
RS138545154
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11B, PEX13-related disorder
Health Risk
RS139999174
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
Health Risk
RS143378216
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 11A (Zellweger), PEX13-related disorder, Peroxisome biogenesis disorder 11A (Zellweger)
Health Risk
RS143972531
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 11A (Zellweger), PEX13-related disorder, Peroxisome biogenesis disorder 11A (Zellweger)
Health Risk
RS145776973
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 11A (Zellweger), PEX13-related disorder, Peroxisome biogenesis disorder 11A (Zellweger)
Health Risk
RS147707348
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 11A (Zellweger), PEX13-related disorder, Peroxisome biogenesis disorder 11A (Zellweger)
Health Risk
RS148296743
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
Health Risk
RS150161574
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 11A (Zellweger), PEX13-related disorder, Peroxisome biogenesis disorder 11A (Zellweger)
Health Risk
RS200847026
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
Health Risk
RS201699810
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 11A (Zellweger), PEX13-related disorder, Peroxisome biogenesis disorder 11A (Zellweger)
Health Risk
All Variants (60)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2467508404 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger) |
| RS2467508461 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger) |
| RS2467508700 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger) |
| RS2467527058 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger) |
| RS2467527251 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger) |
| RS2467527282 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger) |
| RS553968959 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 11A (Zellweger) |
| RS61752113 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 11B, Peroxisome biogenesis disorder 11B |
| RS759431249 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger) |
| RS369851185 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger) |