PEX12 Chromosome 17
Peroxisomal biogenesis factor 12
Upload your DNA to see your personal genotypes for variants in PEX12.
What This Gene Does
This gene belongs to the peroxin-12 family. 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 Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
Peroxins
Locus Type
gene with protein product
Location
17q12
Ensembl
ENSG00000108733
Associated Conditions (12)
Peroxisome biogenesis disorder 3A (Zellweger)
Inborn genetic diseases
PEX12-related disorder
Thyroid cancer
nonmedullary
1
Sarcoma
Familial cancer of breast
Peroxisome biogenesis disorder
Peroxisome biogenesis disorder type 3B
Peroxisomal biogenesis disorder 3b
Acute myeloid leukemia
Key Variants
RS138731505
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 3A (Zellweger), Inborn genetic diseases, PEX12-related disorder
Health Risk
RS139417458
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 3A (Zellweger), PEX12-related disorder, Peroxisome biogenesis disorder 3A (Zellweger)
Health Risk
RS150186509
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 3A (Zellweger), Inborn genetic diseases, PEX12-related disorder
Health Risk
RS1555549869
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
Health Risk
RS187526749
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder, Peroxisome biogenesis disorder type 3B
Health Risk
RS193253559
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 3A (Zellweger), Inborn genetic diseases, Peroxisome biogenesis disorder 3A (Zellweger)
Health Risk
RS200283718
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
Health Risk
RS200641558
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
Health Risk
RS61752112
Conflicting classifications of pathogenicity
Peroxisomal biogenesis disorder 3b, Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B
Health Risk
RS751058068
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B
Health Risk
RS756193716
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
Health Risk
RS758132842
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 3A (Zellweger), PEX12-related disorder, Peroxisome biogenesis disorder 3A (Zellweger)
Health Risk
All Variants (114)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS61752107 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder |
| RS61752108 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder |
| RS747099919 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B |
| RS749650201 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger) |
| RS760739894 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger) |
| RS764657253 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder |
| RS765404768 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B |
| RS767447750 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B |
| RS776731688 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger), PEX12-related disorder |
| RS867245161 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 3A (Zellweger) |
| RS886041458 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger) |
| RS904972651 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B |
| RS923109489 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger) |
| RS945104524 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger) |