PEX16 Chromosome 11

Peroxisomal biogenesis factor 16
69 variants 69 Health Risk

Upload your DNA to see your personal genotypes for variants in PEX16.

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
RS1031968916 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1173649955 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Inborn genetic diseases, Peroxisome biogenesis disorder
RS1381800210 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 8B, Peroxisome biogenesis disorder
RS144063598 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS144897515 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 8A (Zellweger)
RS146476007 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS146657010 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, PEX16-related disorder, Peroxisome biogenesis disorder
RS149348130 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder, PEX16-related disorder
RS1565081217 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1565082984 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS200414298 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 8A (Zellweger)
RS200415017 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, PEX16-related disorder, Melanoma
RS200546977 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS201173264 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Inborn genetic diseases, Peroxisome biogenesis disorder
RS202161790 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder, PEX16-related disorder
RS2134695257 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 8A (Zellweger)
RS369471815 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 8A (Zellweger)
RS370590743 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, PEX16-related disorder, Peroxisome biogenesis disorder
RS372182266 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 8B, Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder
RS530762140 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 8A (Zellweger), PEX16-related disorder, Peroxisome biogenesis disorder 8A (Zellweger)
RS537046144 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder, PEX16-related disorder
RS567165324 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 8B, Peroxisome biogenesis disorder 8A (Zellweger)
RS746173483 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 8A (Zellweger)
RS754790425 Health Risk Conflicting classifications of pathogenicity —
RS758739455 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS763840804 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 8A (Zellweger)
RS774218187 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Inborn genetic diseases, Peroxisome biogenesis disorder
RS775367961 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS777904359 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS779326282 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS780955218 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS781411790 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 8A (Zellweger)
RS886048328 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 8A (Zellweger)
RS913040375 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS921940265 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1064794320 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 8B, Peroxisome biogenesis disorder
RS1590798080 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2086772786 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2134691627 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2134692847 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2134694006 Health Risk Likely pathogenic —
RS2494905864 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Ovarian serous cystadenocarcinoma, Peroxisome biogenesis disorder
RS2494908941 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS530880623 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS778478085 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS797045062 Health Risk Likely pathogenic Peroxisome biogenesis disorder 8B, Peroxisome biogenesis disorder 8B
RS1218545995 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1244471687 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1447178623 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1590793006 Health Risk Pathogenic Peroxisome biogenesis disorder 8B, Peroxisome biogenesis disorder 8B
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