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Gene

PEX26

peroxisomal biogenesis factor 26

Summary

Cytogenetic location
22q11.21
Coordinates
Chromosome 22: 18,077,990–18,105,396 (GRCh38)
Exons
5 exons across 27.4 kb
Protein
305 amino acids
Inheritance
Autosomal recessive
Also known as
FLJ20695
MANE Select transcript
ENST00000399744.8NM_001127649.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Zellweger Spectrum & Peroxisome Biogenesis Disorders

    • Peroxisome biogenesis disorders (Zellweger spectrum and rhizomelic chondrodysplasia punctata)Autosomal recessive

      Changes in any of more than a dozen PEX genes, most often PEX1, affect the brain, liver, kidneys, bones, eyes and hearing, with severity ranging from life-limiting disease in infancy to milder vision, hearing and learning problems.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Diagnosis guides monitoring of liver, adrenal, vision and hearing function, supplementation where appropriate, and carrier testing for relatives.

Broader groupings

  • Other Inherited Leukodystrophies

    • Leukodystrophy (other and unspecified types)

      One of 80 genes linked to it

      Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How PEX26 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 22, with a bracket where PEX26 sits. PEX26 and 10 genes near it on chromosome 22, from 17,591,693 to 18,591,692.Chromosome 2222q11.21p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3317.6 Mb17.8 Mb18 Mb18.2 Mb18.4 MbSLC25A18: 17,562,670–17,591,927, forward strandSLC25A18ATP6V1E1: 17,592,136–17,630,958, reverse strandATP6V1E1BCL2L13: 17,628,848–17,730,855, forward strandBCL2L13BID: 17,734,138–17,774,770, reverse strandBIDMICAL3: 17,787,649–18,024,561, reverse strandMICAL3: 18,077,989–18,131,720, forward strandPEX26: 18,077,990–18,105,396, forward strandPEX26TUBA8: 18,109,704–18,146,683, forward strandTUBA8USP18: 18,148,399–18,177,400, forward strandUSP18GGTLC3: 18,516,338–18,518,161, reverse strandGGTLC3TMEM191B: 18,527,802–18,530,573, forward strandTMEM191BDiagram of PEX26: 5 exons on the forward strand of chromosome 22Exon 1: 19 known disease-causing sitesExon 2: 16 known disease-causing sitesExon 3: 14 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 1: 18,077,990–18,078,606, 617 basesExon 2: 18,079,874–18,080,014, 141 basesExon 3: 18,083,437–18,083,732, 296 basesExon 4: 18,085,112–18,085,258, 147 basesExon 5: 18,087,972–18,105,396, 17,425 bases123455′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 18.6 kb of the gene's 27.4 kb; 918 of those bases code for the protein.

How a genome test reads PEX26

58

positions in PEX26 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 27.4 kb of PEX26, introns included, not only the 18.6 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). PEX26 gene: peroxisomal biogenesis factor 26. Retrieved 16 October 2026, from https://dantelabs.com/genes/pex26

Vancouver

Dante Labs. PEX26 gene: peroxisomal biogenesis factor 26 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pex26

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