PEX1 Chromosome 7
Peroxisomal biogenesis factor 1
Upload your DNA to see your personal genotypes for variants in PEX1.
What This Gene Does
This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]
Gene Info
Gene Group
"AAA ATPases|Peroxins"
Locus Type
gene with protein product
Location
7q21.2
Ensembl
ENSG00000127980
Associated Conditions (19)
Zellweger spectrum disorders
Heimler syndrome 1
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 1A (Zellweger)
Inborn genetic diseases
PEX1-related disorder
Microcephaly
Peroxisome biogenesis disorder
Retinal dystrophy
Uveal melanoma
Peroxisome biogenesis disorder due to PEX1 defect
PEX1-related Peroxisomal Biogenesis Disorder
Peroxisome biogenesis disorder type 1A
Autosomal recessive PEX1-related disorders
Optic atrophy
Leber congenital amaurosis
Peroxisomal disorder
Abnormality of metabolism/homeostasis
See cases
Key Variants
RS1009877821
Conflicting classifications of pathogenicity
Zellweger spectrum disorders, Heimler syndrome 1, Peroxisome biogenesis disorder 1B
Health Risk
RS1033915282
Conflicting classifications of pathogenicity
Zellweger spectrum disorders, Zellweger spectrum disorders
Health Risk
RS112688556
Conflicting classifications of pathogenicity
Zellweger spectrum disorders, Zellweger spectrum disorders
Health Risk
RS112747515
Conflicting classifications of pathogenicity
Zellweger spectrum disorders, Zellweger spectrum disorders
Health Risk
RS113162185
Conflicting classifications of pathogenicity
Zellweger spectrum disorders, Zellweger spectrum disorders
Health Risk
RS1173172739
Conflicting classifications of pathogenicity
Zellweger spectrum disorders, Inborn genetic diseases, Zellweger spectrum disorders
Health Risk
RS1362906637
Conflicting classifications of pathogenicity
Heimler syndrome 1, Heimler syndrome 1
Health Risk
RS138905930
Conflicting classifications of pathogenicity
Zellweger spectrum disorders, Inborn genetic diseases, Zellweger spectrum disorders
Health Risk
RS139054881
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders, PEX1-related disorder
Health Risk
RS139919229
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders, PEX1-related disorder
Health Risk
RS140963147
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders, PEX1-related disorder
Health Risk
RS141510219
Conflicting classifications of pathogenicity
Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1, Peroxisome biogenesis disorder 1B
Health Risk
All Variants (463)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS751829426 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B, Zellweger spectrum disorders |
| RS754983126 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1 |
| RS758402265 | Health Risk | Pathogenic/Likely pathogenic | Zellweger spectrum disorders, Zellweger spectrum disorders |
| RS762324548 | Health Risk | Pathogenic/Likely pathogenic | Heimler syndrome 1, Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders |
| RS767877383 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders, Heimler syndrome 1 |
| RS786204743 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1, Zellweger spectrum disorders |
| RS786205655 | Health Risk | Pathogenic/Likely pathogenic | Zellweger spectrum disorders, Zellweger spectrum disorders |
| RS786205656 | Health Risk | Pathogenic/Likely pathogenic | Zellweger spectrum disorders, Heimler syndrome 1, Zellweger spectrum disorders |
| RS866144313 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders, Zellweger spectrum disorders |
| RS866184460 | Health Risk | Pathogenic/Likely pathogenic | Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger), Heimler syndrome 1 |
| RS886043479 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 1B, Zellweger spectrum disorders, Peroxisome biogenesis disorder 1B |
| RS886043558 | Health Risk | Pathogenic/Likely pathogenic | Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders |
| RS894289737 | Health Risk | Pathogenic/Likely pathogenic | Zellweger spectrum disorders, Heimler syndrome 1, Peroxisome biogenesis disorder 1A (Zellweger) |