PEX10 Chromosome 1
Peroxisomal biogenesis factor 10
Upload your DNA to see your personal genotypes for variants in PEX10.
What This Gene Does
This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Ring finger proteins|Peroxins"
Locus Type
gene with protein product
Location
1p36.32
Ensembl
ENSG00000157911
Associated Conditions (11)
Peroxisome biogenesis disorder 6A (Zellweger)
Peroxisome biogenesis disorder
complementation group 7
Zellweger spectrum disorders
Inborn genetic diseases
PEX10-related disorder
Malignant tumor of urinary bladder
Lung cancer
Peroxisome biogenesis disorder 6B
Lymphoma
Spastic ataxia
Key Variants
RS1322541651
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder, complementation group 7
Health Risk
RS138171306
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder
Health Risk
RS138843050
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, complementation group 7, Zellweger spectrum disorders
Health Risk
RS140107510
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder
Health Risk
RS140133667
Conflicting classifications of pathogenicity
Zellweger spectrum disorders, Peroxisome biogenesis disorder, complementation group 7
Health Risk
RS140340426
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 6A (Zellweger), Zellweger spectrum disorders, PEX10-related disorder
Health Risk
RS141430704
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder 6A (Zellweger)
Health Risk
RS142626035
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder, complementation group 7
Health Risk
RS144264865
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, complementation group 7, Zellweger spectrum disorders
Health Risk
RS1442790649
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder
Health Risk
RS144440263
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder, complementation group 7
Health Risk
RS199934621
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder, complementation group 7
Health Risk
All Variants (145)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2522260956 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder 6A (Zellweger) |
| RS2522261938 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS2522275908 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B |
| RS2522276946 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B |
| RS2522277492 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6A (Zellweger) |
| RS2522280016 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6A (Zellweger) |
| RS2522280332 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder 6A (Zellweger) |
| RS2522280632 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6A (Zellweger) |
| RS2522291178 | Health Risk | Likely pathogenic | — |
| RS2522291443 | Health Risk | Likely pathogenic | — |
| RS2522292002 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6A (Zellweger) |
| RS2522292110 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder 6A (Zellweger) |
| RS2522292254 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6A (Zellweger) |
| RS724160000 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder |
| RS752506584 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6A (Zellweger) |
| RS769251149 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder 6A (Zellweger) |
| RS773164888 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6A (Zellweger) |
| RS867305222 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder |
| RS869312935 | Health Risk | Likely pathogenic | Inborn genetic diseases, Peroxisome biogenesis disorder, complementation group 7 |
| RS1291325133 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS138489241 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS1393899190 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS1414973726 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder |
| RS1553231787 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder |
| RS1643006514 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS1643027426 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS1643028060 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS1643083325 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS1643085902 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS1643093232 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS1643275394 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS2100422532 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS2100422652 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS2100423250 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS2100428321 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS2100428385 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS2100428583 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS2100428812 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS2100429148 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS2522256235 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS2522256413 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS2522256932 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS2522259217 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS2522259655 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS2522260496 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS2522260588 | Health Risk | Pathogenic | Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder 6B |
| RS2522275393 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS2522276086 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS2522276966 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |
| RS2522280068 | Health Risk | Pathogenic | Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder |