PEX14

Chr 1AR

peroxisomal biogenesis factor 14

Also known as: NAPP2, PBD13A, Pex14p, dJ734G22.2

NCBI Gene: 5195 ENSG00000142655 UniProt: O75381 OMIM: 601791

The protein is an essential component of the peroxisomal import machinery that integrates into peroxisome membranes and interacts with cytosolic receptors for proteins containing PTS1 peroxisomal targeting signals. Mutations cause peroxisome biogenesis disorder 13A (Zellweger syndrome), inherited in an autosomal recessive pattern. The pathogenic mechanism involves disruption of peroxisomal protein import, leading to defective peroxisome biogenesis.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Peroxisome biogenesis disorder 13A (Zellweger)MIM #614887

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

—

P/LP missense

0.52

LOEUF

Multiple*

Mechanism· G2P

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GeneReview available — PEX14