PEX6 Chromosome 6
Peroxisomal biogenesis factor 6
Upload your DNA to see your personal genotypes for variants in PEX6.
What This Gene Does
This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Gene Info
Gene Group
"AAA ATPases|Peroxins"
Locus Type
gene with protein product
Location
6p21.1
Ensembl
ENSG00000124587
Associated Conditions (13)
Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder
Zellweger spectrum disorders
Heimler syndrome 2
Peroxisome biogenesis disorder 4B
Peroxisome biogenesis disorder 1A (Zellweger)
PEX6-related disorder
Inborn genetic diseases
6 conditions
Retinal dystrophy
Peroxisome biogenesis disorder 2B
See cases
Autosomal recessive PEX6-related disorders
Key Variants
RS1171568759
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger)
Health Risk
RS1187015124
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
Health Risk
RS1196012985
Conflicting classifications of pathogenicity
Zellweger spectrum disorders, Peroxisome biogenesis disorder, Heimler syndrome 2
Health Risk
RS1222318292
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, Zellweger spectrum disorders, Peroxisome biogenesis disorder 4B
Health Risk
RS1244339215
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger)
Health Risk
RS1282410534
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
Health Risk
RS1360001006
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
Health Risk
RS138621982
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger), Zellweger spectrum disorders
Health Risk
RS140769712
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder, Heimler syndrome 2
Health Risk
RS140806942
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
Health Risk
RS142899308
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder, Zellweger spectrum disorders
Health Risk
RS142958800
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
Health Risk
All Variants (321)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1561831003 | Health Risk | Likely pathogenic | Heimler syndrome 2, Heimler syndrome 2 |
| RS1581760028 | Health Risk | Likely pathogenic | Heimler syndrome 2, Heimler syndrome 2 |
| RS1581760572 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder, Heimler syndrome 2, Peroxisome biogenesis disorder |
| RS1769772582 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder, Heimler syndrome 2, Peroxisome biogenesis disorder |
| RS1769988075 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder, Heimler syndrome 2, Peroxisome biogenesis disorder |
| RS1769993888 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger) |
| RS1770433664 | Health Risk | Likely pathogenic | Heimler syndrome 2, Heimler syndrome 2 |
| RS2114236937 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder, Heimler syndrome 2, Peroxisome biogenesis disorder |
| RS2114237186 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder, Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS2114237595 | Health Risk | Likely pathogenic | — |
| RS2114238521 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS2114240428 | Health Risk | Likely pathogenic | — |
| RS2114247797 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS2150236110 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger) |
| RS2150239329 | Health Risk | Likely pathogenic | Heimler syndrome 2, Heimler syndrome 2 |
| RS2481195709 | Health Risk | Likely pathogenic | Heimler syndrome 2, Heimler syndrome 2 |
| RS2481196486 | Health Risk | Likely pathogenic | Heimler syndrome 2, Heimler syndrome 2 |
| RS2481198115 | Health Risk | Likely pathogenic | Heimler syndrome 2, Heimler syndrome 2 |
| RS2481199616 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS2481199848 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger) |
| RS2481199869 | Health Risk | Likely pathogenic | Heimler syndrome 2, Heimler syndrome 2 |
| RS2481200515 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS2481202424 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS2481202482 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger) |
| RS2481202893 | Health Risk | Likely pathogenic | Heimler syndrome 2, Zellweger spectrum disorders, Heimler syndrome 2 |
| RS2481202967 | Health Risk | Likely pathogenic | Heimler syndrome 2, Heimler syndrome 2 |
| RS2481205386 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger) |
| RS2481205819 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger) |
| RS2481205835 | Health Risk | Likely pathogenic | — |
| RS2481207616 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger) |
| RS2481207781 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger) |
| RS2481207964 | Health Risk | Likely pathogenic | Heimler syndrome 2, Heimler syndrome 2 |
| RS2481208048 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger) |
| RS2481208244 | Health Risk | Likely pathogenic | Heimler syndrome 2, Heimler syndrome 2 |
| RS2481208620 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger) |
| RS2481208712 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger) |
| RS2481208884 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger) |
| RS2481210264 | Health Risk | Likely pathogenic | Heimler syndrome 2, Heimler syndrome 2 |
| RS2481210415 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger) |
| RS2481210846 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger) |
| RS2481211868 | Health Risk | Likely pathogenic | Heimler syndrome 2, Heimler syndrome 2 |
| RS2481216669 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS2481216714 | Health Risk | Likely pathogenic | Heimler syndrome 2, Heimler syndrome 2 |
| RS2481217220 | Health Risk | Likely pathogenic | Heimler syndrome 2, Heimler syndrome 2 |
| RS2481224131 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger) |
| RS2481225707 | Health Risk | Likely pathogenic | Heimler syndrome 2, Heimler syndrome 2 |
| RS2481228543 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder, Peroxisome biogenesis disorder |
| RS2481228800 | Health Risk | Likely pathogenic | Heimler syndrome 2, Heimler syndrome 2 |
| RS2481229205 | Health Risk | Likely pathogenic | Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger) |
| RS2481229568 | Health Risk | Likely pathogenic | Heimler syndrome 2, Heimler syndrome 2 |