PEX5

Chr 12AR

peroxisomal biogenesis factor 5

Also known as: PBD2A, PBD2B, PTS1-BP, PTS1R, PXR1, RCDP5

NCBI Gene: 5830 ENSG00000139197 UniProt: P50542 OMIM: 600414

The protein functions as a receptor that binds to C-terminal PTS1-type peroxisomal targeting signals and mediates the import of proteins into the peroxisome matrix. Autosomal recessive mutations cause peroxisome biogenesis disorders including Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease, and rhizomelic chondrodysplasia punctata type 5. These conditions result from defective peroxisomal protein import, leading to multiple defects in peroxisome function.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Peroxisome biogenesis disorder 2A (Zellweger)MIM #214110

Peroxisome biogenesis disorder 2BMIM #202370

Rhizomelic chondrodysplasia punctata, type 5MIM #616716

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), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.59

LOEUF

LOF

Mechanism· G2P

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GeneReview available — PEX5