PEX16 Chromosome 11
Peroxisomal biogenesis factor 16
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What This Gene Does
The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Peroxins
Locus Type
gene with protein product
Location
11p11.2
Ensembl
ENSG00000121680
Associated Conditions (7)
Peroxisome biogenesis disorder
Inborn genetic diseases
Peroxisome biogenesis disorder 8B
Peroxisome biogenesis disorder 8A (Zellweger)
PEX16-related disorder
Melanoma
Ovarian serous cystadenocarcinoma
Key Variants
RS1031968916
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
Health Risk
RS1173649955
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, Inborn genetic diseases, Peroxisome biogenesis disorder
Health Risk
RS1381800210
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 8B, Peroxisome biogenesis disorder
Health Risk
RS144063598
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
Health Risk
RS144897515
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 8A (Zellweger)
Health Risk
RS146476007
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
Health Risk
RS146657010
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, PEX16-related disorder, Peroxisome biogenesis disorder
Health Risk
RS149348130
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder, PEX16-related disorder
Health Risk
RS1565081217
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
Health Risk
RS1565082984
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
Health Risk
RS200414298
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 8A (Zellweger)
Health Risk
RS200415017
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, PEX16-related disorder, Melanoma
Health Risk
All Variants (69)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2086807269 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS2086814554 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS2134692559 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS2134695309 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS2134699162 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS2134699707 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS2494874800 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 8B, Peroxisome biogenesis disorder 8B |
| RS2494892546 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS2494894653 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS2494894758 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS2494905042 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS2494917564 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS267608185 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder 8A (Zellweger) |
| RS397514472 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 8B, Peroxisome biogenesis disorder 8B |
| RS61752117 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 8A (Zellweger) |
| RS765872761 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS770726448 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS1355804755 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS769772100 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 8B, Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 8A (Zellweger) |