PEX11B Chromosome 1
Peroxisomal biogenesis factor 11 beta
Upload your DNA to see your personal genotypes for variants in PEX11B.
What This Gene Does
The protein encoded by this gene facilitates peroxisomal proliferation and interacts with PEX19. The encoded protein is found in the peroxisomal membrane. Several transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012]
Gene Info
Gene Group
Peroxins
Locus Type
gene with protein product
Location
1q21.1
Ensembl
ENSG00000131779
Associated Conditions (5)
Peroxisome biogenesis disorder 14B
PEX11B-related disorder
Radial aplasia-thrombocytopenia syndrome
Inborn genetic diseases
Peroxisome biogenesis disorder
Key Variants
RS1036892634
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 14B, Peroxisome biogenesis disorder 14B
Health Risk
RS1049689144
Conflicting classifications of pathogenicity
PEX11B-related disorder, PEX11B-related disorder
Health Risk
RS148000769
Conflicting classifications of pathogenicity
Health Risk
RS1553753971
Conflicting classifications of pathogenicity
Radial aplasia-thrombocytopenia syndrome, Peroxisome biogenesis disorder 14B, Radial aplasia-thrombocytopenia syndrome
Health Risk
RS1657858393
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200094067
Conflicting classifications of pathogenicity
Health Risk
RS587764801
Conflicting classifications of pathogenicity
Health Risk
RS782275834
Conflicting classifications of pathogenicity
Health Risk
RS782342783
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 14B, Peroxisome biogenesis disorder 14B
Health Risk
RS782365743
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 14B, PEX11B-related disorder, Peroxisome biogenesis disorder 14B
Health Risk
RS1553753994
Likely pathogenic
Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
Health Risk
RS1553754148
Likely pathogenic
Peroxisome biogenesis disorder 14B, Peroxisome biogenesis disorder 14B
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1036892634 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder 14B, Peroxisome biogenesis disorder 14B |
| RS1049689144 | Health Risk | Conflicting classifications of pathogenicity | PEX11B-related disorder, PEX11B-related disorder |
| RS148000769 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1553753971 | Health Risk | Conflicting classifications of pathogenicity | Radial aplasia-thrombocytopenia syndrome, Peroxisome biogenesis disorder 14B, Radial aplasia-thrombocytopenia syndrome |
| RS1657858393 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200094067 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS587764801 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782275834 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782342783 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder 14B, Peroxisome biogenesis disorder 14B |
| RS782365743 | Health Risk | Conflicting classifications of pathogenicity | Peroxisome biogenesis disorder 14B, PEX11B-related disorder, Peroxisome biogenesis disorder 14B |
| RS1553753994 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS1553754148 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 14B, Peroxisome biogenesis disorder 14B |
| RS199515730 | Health Risk | Likely pathogenic | — |
| RS1553754165 | Health Risk | Pathogenic | — |
| RS2525424719 | Health Risk | Pathogenic | — |
| RS397515419 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 14B, Peroxisome biogenesis disorder 14B |
| RS781939614 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 14B, Peroxisome biogenesis disorder 14B |
| RS781984979 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 14B, Peroxisome biogenesis disorder 14B |
| RS782262926 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 14B, Peroxisome biogenesis disorder 14B |