PEX3

Chr 6AR

peroxisomal biogenesis factor 3

NCBI Gene: 8504 ENSG00000034693 UniProt: P56589 OMIM: 603164

The protein assembles membrane vesicles during peroxisome biogenesis before matrix protein translocation occurs. Mutations cause peroxisome biogenesis disorders including Zellweger syndrome, inherited in an autosomal recessive pattern. The pathogenic mechanism involves dominant-negative effects where mutant proteins disrupt normal peroxisome assembly and function.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix proteins are translocated. As a docking factor for PEX19, is necessary for the import of peroxisomal membrane proteins in the peroxisomes

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Peroxisome biogenesis disorder 10BMIM #617370

Peroxisome biogenesis disorder 10A (Zellweger)MIM #614882

Clinical highlights

Gene-disease validity (ClinGen)

peroxisome biogenesis disorder · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.56

LOEUF

LOF

Mechanism· G2P

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GeneReview available — PEX3