PEX16

Chr 11

peroxisomal biogenesis factor 16

Also known as: PBD8A, PBD8B

NCBI Gene: 9409 ENSG00000121680 UniProt: Q9Y5Y5

The protein is an integral peroxisomal membrane protein required for peroxisome biogenesis and organization. Mutations cause autosomal recessive peroxisome biogenesis disorders including Zellweger syndrome (type 8A) and the milder type 8B, through loss of protein function that prevents normal peroxisome formation.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPeroxisome biogenesis disorder complementation group 9

UniProtPeroxisome biogenesis disorder 8A

UniProtPeroxisome biogenesis disorder 8B

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

0.82

LOEUF

LOF

Mechanism· G2P

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GeneReview available — PEX16