PEX13

Chr 2AR

peroxisomal biogenesis factor 13

Also known as: NALD, PBD11A, PBD11B, ZWS

NCBI Gene: 5194 ENSG00000162928 UniProt: Q92968 OMIM: 601789

This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a cytoplasmic SH3 domain, facilitating protein import into peroxisomes. Mutations cause autosomal recessive peroxisome biogenesis disorders including Zellweger syndrome (PBD11A) and the milder PBD11B phenotype. Loss-of-function mutations disrupt peroxisomal protein import and peroxisome assembly, leading to the characteristic metabolic and developmental abnormalities seen in these disorders.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Peroxisome biogenesis disorder 11A (Zellweger)MIM #614883

Peroxisome biogenesis disorder 11BMIM #614885

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)

—

P/LP submissions

—

P/LP missense

1.01

LOEUF

LOF

Mechanism· G2P

📖

GeneReview available — PEX13