PEX11B

Chr 1AR

peroxisomal biogenesis factor 11 beta

Also known as: PEX11-BETA, PEX11beta, PEX14B

NCBI Gene: 8799 ENSG00000131779 UniProt: O96011 OMIM: 603867

The protein facilitates peroxisomal proliferation by promoting membrane protrusion and elongation on the peroxisomal surface and recruiting dynamin-related GTPase to regulate peroxisome division. Mutations cause peroxisome biogenesis disorder 14B, inherited in an autosomal recessive pattern. The gene shows relatively low constraint to loss-of-function variants (pLI 0.0001, LOEUF 1.08), suggesting the disorder requires biallelic loss of function.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene facilitates peroxisomal proliferation and interacts with PEX19. The encoded protein is found in the peroxisomal membrane. Several transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Peroxisome biogenesis disorder 14BMIM #614920

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

1.08

LOEUF

LOF

Mechanism· G2P

📖

GeneReview available — PEX11B