PEX1 Chromosome 7

Peroxisomal biogenesis factor 1
463 variants 463 Health Risk

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
RS1792847005 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS1792860966 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS1793076317 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS1793402720 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS201415996 Health Risk Pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS2116059303 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116059937 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116059968 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116077400 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116077430 Health Risk Pathogenic Zellweger spectrum disorders, Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS2116091512 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116091859 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116110975 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116145117 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116145324 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116156265 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116165809 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116165935 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116166262 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116181485 Health Risk Pathogenic Heimler syndrome 1, Heimler syndrome 1
RS2116181877 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116209376 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116220949 Health Risk Pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1A (Zellweger)
RS2116243800 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116245705 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2116299216 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484612471 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484612618 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484620768 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484620854 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484628973 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484638354 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484646254 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484659833 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484660252 Health Risk Pathogenic Zellweger spectrum disorders, Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS2484660560 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484661382 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484661583 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484661912 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484662033 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484664869 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484668233 Health Risk Pathogenic Zellweger spectrum disorders, Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS2484673333 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484673537 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484676331 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484676419 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484676651 Health Risk Pathogenic Heimler syndrome 1, Zellweger spectrum disorders, Heimler syndrome 1
RS2484681976 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS2484687530 Health Risk Pathogenic Heimler syndrome 1, Heimler syndrome 1
RS2484702514 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
« Prev 1 ... 4 5 6 7 8 9 10 Next »
Sign Up to Analyze Your DNA Log In