PEX1
Chr 7ARperoxisomal biogenesis factor 1
Also known as: HMLR1, PBD1A, PBD1B, ZWS, ZWS1
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]
Primary Disease Associations & Inheritance
Clinical highlights
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PEX1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
RECRUITINGThe Myelin Disorders Biorepository Project
RECRUITINGLongitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder
RECRUITINGExternal Resources
Links to major genomics databases and tools