PEX5 Chromosome 12
Peroxisomal biogenesis factor 5
Upload your DNA to see your personal genotypes for variants in PEX5.
What This Gene Does
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]
Gene Info
Gene Group
"Tetratricopeptide repeat domain containing|Peroxins"
Locus Type
gene with protein product
Location
12p13.31
Ensembl
ENSG00000139197
Associated Conditions (11)
Peroxisome biogenesis disorder 2B
Peroxisome biogenesis disorder 2A (Zellweger)
Inborn genetic diseases
PEX5-related disorder
Microcephaly
Peroxisome biogenesis disorder due to PEX5 defect
Rhizomelic chondrodysplasia punctata type 5
Peroxisome biogenesis disorder
Rhizomelic chondrodysplasia punctata
Abnormality of metabolism/homeostasis
Zellweger spectrum disorders
Key Variants
RS1085307998
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
Health Risk
RS111286659
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 2A (Zellweger), Peroxisome biogenesis disorder 2B, Inborn genetic diseases
Health Risk
RS115760878
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2A (Zellweger), Peroxisome biogenesis disorder 2B
Health Risk
RS138205085
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
Health Risk
RS138243167
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 2B, PEX5-related disorder, Peroxisome biogenesis disorder 2B
Health Risk
RS139364109
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 2B, Microcephaly, Peroxisome biogenesis disorder 2A (Zellweger)
Health Risk
RS140332077
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
Health Risk
RS142408719
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
Health Risk
RS143571888
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
Health Risk
RS144165818
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
Health Risk
RS144331955
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
Health Risk
RS144351488
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 2B, PEX5-related disorder, Peroxisome biogenesis disorder 2B
Health Risk
All Variants (112)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS932238098 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder 2B, PEX5-related disorder, Peroxisome biogenesis disorder 2B |
| RS1337097694 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder due to PEX5 defect, Peroxisome biogenesis disorder due to PEX5 defect |
| RS1468724704 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS1591759567 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2135880243 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 2B, Rhizomelic chondrodysplasia punctata type 5, Peroxisome biogenesis disorder 2A (Zellweger) |
| RS2135903939 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2136176386 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2136226194 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2A (Zellweger), Rhizomelic chondrodysplasia punctata type 5 |
| RS2136254229 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2539801815 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2539802789 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2540148926 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2540160367 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS2540182221 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2540182543 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2540339398 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 5, Rhizomelic chondrodysplasia punctata type 5 |
| RS749342175 | Health Risk | Likely pathogenic | Rhizomelic chondrodysplasia punctata type 5, Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2A (Zellweger) |
| RS769741088 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS1300934931 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS1374334296 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS1425522784 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS1731078730 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS1941140792 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS1941153600 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2135879026 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2136074154 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2136075415 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2136158689 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2136243209 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2136254746 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2539797147 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2539798184 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2539799070 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2539799335 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2539799464 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2540040198 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2540040738 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2540125931 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2540148055 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2540148386 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2540275433 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2540276834 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2540277461 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2540292773 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2540296604 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS2540322042 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS61752137 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2A (Zellweger), Peroxisome biogenesis disorder 2B, Rhizomelic chondrodysplasia punctata type 5 |
| RS759789707 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS767347186 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B |
| RS777733574 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 2B, PEX5-related disorder, Peroxisome biogenesis disorder 2B |