PEX26

peroxisomal biogenesis factor 26

2 disorders 2 untyped 22q11.21 gene with protein product

HGNC:22965 Monarch NCBI Gene 55670 ENSG00000215193 UniProt Q7Z412 OMIM 608666

Aliases: FLJ20695.

Normal function · from ai-gene-review (Q7Z412, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status IN_PROGRESS; the description is shown only once the review is complete. Read the draft upstream.

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	mechanism: Peroxisome Biogenesis Defect
Zellweger Spectrum Disorders	untyped Autosomal recessive causal pathogenic variant. PEX26 anchors the PEX1-PEX6 AAA+ ATPase pair to the peroxisomal membrane, so PEX26 loss disables the same receptor export step as PEX1 and PEX6 loss.	mechanism: Receptor Export Module ATPase Failure subtype: PEX26-ZSD scoped to subtype: PEX26-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 2020-02-07	Peroxisome Biogenesis Disorder untyped

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