PEX6 Chromosome 6

Peroxisomal biogenesis factor 6
321 variants 321 Health Risk

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
RS748032659 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, PEX6-related disorder, Peroxisome biogenesis disorder
RS748535121 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Zellweger spectrum disorders, Inborn genetic diseases
RS748779475 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS749798782 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS752177240 Health Risk Conflicting classifications of pathogenicity Heimler syndrome 2, Peroxisome biogenesis disorder, PEX6-related disorder
RS756358409 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS757479364 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Inborn genetic diseases, Peroxisome biogenesis disorder
RS757897959 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Zellweger spectrum disorders, Peroxisome biogenesis disorder
RS758218388 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS758416830 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Zellweger spectrum disorders, Peroxisome biogenesis disorder
RS759402659 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder, Zellweger spectrum disorders
RS766104579 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS766574538 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS769896492 Health Risk Conflicting classifications of pathogenicity Heimler syndrome 2, Peroxisome biogenesis disorder, PEX6-related disorder
RS771063294 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Zellweger spectrum disorders, Heimler syndrome 2
RS772869377 Health Risk Conflicting classifications of pathogenicity Heimler syndrome 2, Peroxisome biogenesis disorder, PEX6-related disorder
RS774117516 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS775778545 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Inborn genetic diseases, Peroxisome biogenesis disorder
RS776610051 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger)
RS777826616 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS778791031 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B, Heimler syndrome 2
RS780239941 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Inborn genetic diseases, Peroxisome biogenesis disorder
RS886037779 Health Risk Conflicting classifications of pathogenicity Heimler syndrome 2, Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS886037782 Health Risk Conflicting classifications of pathogenicity Heimler syndrome 2, Heimler syndrome 2
RS886043369 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS886043877 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS886043987 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS1160151083 Health Risk Likely pathogenic Heimler syndrome 2, PEX6-related disorder, Heimler syndrome 2
RS1227840515 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1241961364 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS1287837850 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS1356280167 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B, Peroxisome biogenesis disorder 4A (Zellweger)
RS1367344104 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS1371143729 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS1375371745 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS1395477387 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS1409234072 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS1435802052 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS1443107232 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B, Peroxisome biogenesis disorder
RS1554126798 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B, Peroxisome biogenesis disorder 4A (Zellweger)
RS1554126965 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS1554127383 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B, Peroxisome biogenesis disorder
RS1554127415 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B, Peroxisome biogenesis disorder
RS1554127531 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B, Heimler syndrome 2
RS1554127533 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B, Peroxisome biogenesis disorder
RS1554127968 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B, Peroxisome biogenesis disorder
RS1554128476 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B, Peroxisome biogenesis disorder 4A (Zellweger)
RS1554128488 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B, Heimler syndrome 2
RS1554128586 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B, Heimler syndrome 2
RS1561830903 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
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