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
RS1171568759 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger)
RS1187015124 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1196012985 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Peroxisome biogenesis disorder, Heimler syndrome 2
RS1222318292 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Zellweger spectrum disorders, Peroxisome biogenesis disorder 4B
RS1244339215 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger)
RS1282410534 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1360001006 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS138621982 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger), Zellweger spectrum disorders
RS140769712 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder, Heimler syndrome 2
RS140806942 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS142899308 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder, Zellweger spectrum disorders
RS142958800 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1437291000 Health Risk Conflicting classifications of pathogenicity —
RS145243129 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder, Zellweger spectrum disorders
RS146416679 Health Risk Conflicting classifications of pathogenicity Heimler syndrome 2, Peroxisome biogenesis disorder, Zellweger spectrum disorders
RS147567606 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS151234121 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger), PEX6-related disorder
RS1554126803 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1554127389 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B, Peroxisome biogenesis disorder
RS1561831496 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1769712635 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger)
RS1770406319 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger)
RS183449855 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger), Zellweger spectrum disorders
RS191944205 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS201879957 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger)
RS202049230 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder, Zellweger spectrum disorders
RS267608203 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B, Peroxisome biogenesis disorder
RS267608230 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger), Zellweger spectrum disorders
RS267608239 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B, 6 conditions
RS267608240 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B, Peroxisome biogenesis disorder
RS267608246 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B, Peroxisome biogenesis disorder
RS267608247 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger)
RS34324426 Health Risk Conflicting classifications of pathogenicity Heimler syndrome 2, Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS368560418 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Zellweger spectrum disorders, PEX6-related disorder
RS370661410 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger)
RS374342179 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS374396138 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Zellweger spectrum disorders, Peroxisome biogenesis disorder 4A (Zellweger)
RS377041406 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Zellweger spectrum disorders, PEX6-related disorder
RS533766104 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder, PEX6-related disorder
RS562698757 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS576399709 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, PEX6-related disorder, Inborn genetic diseases
RS577794661 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS61732159 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Zellweger spectrum disorders, PEX6-related disorder
RS61752139 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B, Peroxisome biogenesis disorder
RS61752141 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger), Inborn genetic diseases
RS61753220 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder, Zellweger spectrum disorders
RS61753228 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS61753231 Health Risk Conflicting classifications of pathogenicity PEX6-related disorder, Peroxisome biogenesis disorder, Zellweger spectrum disorders
RS727504083 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, PEX6-related disorder, Peroxisome biogenesis disorder
RS746578841 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
1 2 3 4 ... 7 Next »
Sign Up to Analyze Your DNA Log In