PEX26

Chr 22AR

peroxisomal biogenesis factor 26

Also known as: PBD7A, PBD7B, PEX26M1T, Pex26pM1T

NCBI Gene: 55670 ENSG00000215193 UniProt: Q7Z412 OMIM: 608666

The protein anchors PEX1 and PEX6 to peroxisome membranes to form AAA ATPase complexes required for importing proteins into peroxisomes. Mutations cause autosomal recessive peroxisome biogenesis disorders including Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease, and classical rhizomelic chondrodysplasia punctata due to failure of peroxisomal protein import. Loss-of-function mutations disrupt peroxisome assembly and function by preventing proper formation of the protein import machinery.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2010]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Peroxisome biogenesis disorder 7A (Zellweger)MIM #614872

Peroxisome biogenesis disorder 7BMIM #614873

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

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P/LP missense

0.37

LOEUF

LOF

Mechanism· G2P

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GeneReview available — PEX26