PEX12 Chromosome 17

Peroxisomal biogenesis factor 12
114 variants 114 Health Risk

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
RS2142231614 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509168063 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509168093 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509168202 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509168351 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509168475 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509169443 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509169504 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509169676 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), PEX12-related disorder, Peroxisome biogenesis disorder 3A (Zellweger)
RS2509169869 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509170081 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509170297 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509170348 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509171466 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509171496 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509171635 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509171674 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS28936698 Health Risk Pathogenic Peroxisomal biogenesis disorder 3b, Peroxisomal biogenesis disorder 3b
RS398123301 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder
RS61752097 Health Risk Pathogenic Peroxisomal biogenesis disorder 3b, Peroxisomal biogenesis disorder 3b
RS61752100 Health Risk Pathogenic Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder
RS61752101 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS61752103 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisomal biogenesis disorder 3b, Peroxisome biogenesis disorder type 3B
RS61752104 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS61752106 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder
RS61752109 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 3A (Zellweger)
RS61752111 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS62642859 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
RS754193088 Health Risk Pathogenic Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B
RS768427035 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS773837266 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS888633730 Health Risk Pathogenic Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B
RS916211345 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS1056238409 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS1238451790 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B
RS1555549855 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, PEX12-related disorder
RS1555549876 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
RS192653658 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2072781707 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2072782816 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2072790040 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
RS2142228928 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS2509168104 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
RS2509170684 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS267608184 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
RS28936697 Health Risk Pathogenic/Likely pathogenic Peroxisomal biogenesis disorder 3b, Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder
RS398123302 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger), PEX12-related disorder
RS61752099 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS61752102 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder
RS61752105 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
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