PEX14 Chromosome 1
Peroxisomal biogenesis factor 14
Upload your DNA to see your personal genotypes for variants in PEX14.
What This Gene Does
This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Peroxins
Locus Type
gene with protein product
Location
1p36.22
Ensembl
ENSG00000142655
Associated Conditions (6)
Peroxisome biogenesis disorder
complementation group K
PEX14-related disorder
Peroxisome biogenesis disorder 13A (Zellweger)
Clear cell carcinoma of kidney
Inborn genetic diseases
Key Variants
RS112851814
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, complementation group K, PEX14-related disorder
Health Risk
RS1202283239
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder, complementation group K
Health Risk
RS12068754
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, complementation group K, PEX14-related disorder
Health Risk
RS139797106
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, complementation group K, Clear cell carcinoma of kidney
Health Risk
RS142285791
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, complementation group K, PEX14-related disorder
Health Risk
RS143378690
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, complementation group K, Peroxisome biogenesis disorder 13A (Zellweger)
Health Risk
RS143412169
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder, complementation group K
Health Risk
RS145867351
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, complementation group K, Peroxisome biogenesis disorder
Health Risk
RS145888212
Conflicting classifications of pathogenicity
Inborn genetic diseases, Peroxisome biogenesis disorder, complementation group K
Health Risk
RS145899844
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, complementation group K, Peroxisome biogenesis disorder
Health Risk
RS146053705
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, complementation group K, PEX14-related disorder
Health Risk
RS146359055
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, complementation group K, PEX14-related disorder
Health Risk
All Variants (52)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112851814 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, PEX14-related disorder |
| RS1202283239 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder, complementation group K |
| RS12068754 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, PEX14-related disorder |
| RS139797106 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, Clear cell carcinoma of kidney |
| RS142285791 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, PEX14-related disorder |
| RS143378690 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, Peroxisome biogenesis disorder 13A (Zellweger) |
| RS143412169 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder, complementation group K |
| RS145867351 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, Peroxisome biogenesis disorder |
| RS145888212 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Peroxisome biogenesis disorder, complementation group K |
| RS145899844 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, Peroxisome biogenesis disorder |
| RS146053705 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, PEX14-related disorder |
| RS146359055 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, PEX14-related disorder |
| RS147043673 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, Peroxisome biogenesis disorder |
| RS147210317 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, Peroxisome biogenesis disorder |
| RS147683525 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder, complementation group K |
| RS147706488 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, Peroxisome biogenesis disorder 13A (Zellweger) |
| RS148479162 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, Peroxisome biogenesis disorder 13A (Zellweger) |
| RS149856184 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, Peroxisome biogenesis disorder |
| RS1557438039 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, Peroxisome biogenesis disorder |
| RS182967518 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder, complementation group K |
| RS199552789 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, PEX14-related disorder |
| RS200154696 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder, complementation group K |
| RS200684088 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder, complementation group K |
| RS201107513 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, Peroxisome biogenesis disorder 13A (Zellweger) |
| RS201978719 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, Peroxisome biogenesis disorder |
| RS201979629 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder, complementation group K |
| RS367982022 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder 13A (Zellweger), PEX14-related disorder, Peroxisome biogenesis disorder 13A (Zellweger) |
| RS368244738 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, Inborn genetic diseases |
| RS371329619 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder, complementation group K |
| RS371473184 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder, complementation group K |
| RS372035480 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, Peroxisome biogenesis disorder |
| RS372630614 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder, complementation group K |
| RS41274484 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder, complementation group K |
| RS543843635 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder, complementation group K |
| RS572028093 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, Peroxisome biogenesis disorder |
| RS727504081 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, Peroxisome biogenesis disorder |
| RS747580093 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, Peroxisome biogenesis disorder |
| RS757658916 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, PEX14-related disorder |
| RS764907398 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, PEX14-related disorder |
| RS772300180 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder, complementation group K |
| RS772527603 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, PEX14-related disorder |
| RS775297789 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, Peroxisome biogenesis disorder |
| RS779545665 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, Peroxisome biogenesis disorder |
| RS781098256 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, Peroxisome biogenesis disorder |
| RS79954820 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder, complementation group K |
| RS928631810 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder, complementation group K, Peroxisome biogenesis disorder |
| RS1391484758 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder, complementation group K, Peroxisome biogenesis disorder |
| RS1641167602 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder, complementation group K, Peroxisome biogenesis disorder |
| RS2521665871 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder, complementation group K, Peroxisome biogenesis disorder |
| RS2521826589 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder, complementation group K, Peroxisome biogenesis disorder |