PEX11B

peroxisomal biogenesis factor 11 beta

2 disorders 2 untyped 1q21.1 gene with protein product

HGNC:8853 Monarch NCBI Gene 8799 ENSG00000131779 UniProt O96011 OMIM 603867

Aliases: PEX11beta, PEX11β.

Normal function · from ai-gene-review (O96011, commit 79fe13b38970) · AI-generated, not KB evidence

PEX11B (Peroxisomal membrane protein 11B / Peroxin-11B) is an integral peroxisomal membrane protein and the constitutively expressed member of the PEX11 family (PEX11A, PEX11B, PEX11G). It is the primary driver of constitutive peroxisome proliferation via the growth-and-division pathway. PEX11B uses an N-terminal amphipathic helix to directly deform and elongate the peroxisomal membrane, and forms homo-oligomers and hetero-oligomers (with PEX11G). It coordinates with the fission machinery (FIS1, MFF, DRP1/DNM1L) to complete peroxisome division. Mutations in PEX11B cause Peroxisome Biogenesis Disorder 14B (OMIM 614920), characterized by congenital cataracts, mild intellectual disability, hearing loss, and polyneuropathy. PEX11B has two transmembrane domains with both N- and C-termini facing the cytosol.

PEX11B is the primary constitutive driver of peroxisome fission via the growth-and-division pathway. It directly deforms and elongates the peroxisomal membrane through its N-terminal amphipathic helix and homo-oligomerization. PEX11B coordinates with the fission machinery (FIS1, MFF, DRP1/DNM1L) to complete membrane scission. Its overexpression induces peroxisome proliferation; its loss causes reduced peroxisome number and elongated peroxisomes (PMID:9792670, PMID:17408615, PMID:20826455).

molecular function: protein homodimerization activity · directly involved in: peroxisome fission; regulation of peroxisome size · locations: peroxisomal membrane

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Peroxisome Biogenesis Disorder	untyped Pathogenic Variants
Zellweger Spectrum Disorders	untyped Autosomal recessive causal pathogenic variant. PEX11B elongates the peroxisomal membrane ahead of DLP1-mediated division, so PEX11B disease is a peroxisome proliferation defect rather than an assembly or matrix import defect.	mechanism: Peroxisome Division Failure subtype: PEX11B-ZSD scoped to subtype: PEX11B-ZSD

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
peroxisome biogenesis disorder MONDO:0019234	AR	Definitive 2020-01-17	Peroxisome Biogenesis Disorder untyped

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.