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Gene

PEX16

peroxisomal biogenesis factor 16

Summary

Cytogenetic location
11p11.2
Coordinates
Chromosome 11: 45,909,663–45,917,877 (GRCh38)
Exons
11 exons across 8.2 kb
Protein
336 amino acids
Inheritance
Autosomal recessive
MANE Select transcript
ENST00000378750.10NM_004813.4
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
      • 4 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
      • 4 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 PEX16 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where PEX16 sits. PEX16 and 12 genes near it on chromosome 11, from 45,413,770 to 46,413,769.Chromosome 1111p11.2p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2545.6 Mb45.8 Mb46 Mb46.2 Mb46.4 MbCHST1: 45,647,689–45,666,096, reverse strandCHST1SLC35C1: 45,804,071–45,813,016, forward strandSLC35C1CRY2: 45,847,118–45,883,248, forward strandCRY2MAPK8IP1: 45,885,593–45,906,470, forward strandMAPK8IP1FREY1: 45,906,513–45,907,272, reverse strandFREY1PEX16: 45,909,663–45,917,877, reverse strandPEX16LARGE2: 45,918,146–45,929,376, forward strandLARGE2PHF21A: 45,929,319–46,121,473, reverse strandCREB3L1: 46,277,636–46,321,422, forward strandCREB3L1DGKZ: 46,332,665–46,380,555, forward strandDGKZMDK: 46,380,748–46,383,837, forward strandMDKCHRM4: 46,383,589–46,391,990, reverse strandCHRM4AMBRA1: 46,396,414–46,594,242, reverse strandAMBRA1Diagram of PEX16: 11 exons on the reverse strand of chromosome 11Exon 11: 1 known disease-causing siteExon 9: 5 known disease-causing sitesExon 8: 4 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 1: 3 known disease-causing sitesExon 11: 45,909,663–45,910,312, 650 basesExon 10: 45,910,898–45,910,962, 65 basesExon 9: 45,913,819–45,913,938, 120 basesExon 8: 45,914,131–45,914,203, 73 basesExon 7: 45,914,316–45,914,468, 153 basesExon 6: 45,914,604–45,914,684, 81 basesExon 5: 45,915,468–45,915,568, 101 basesExon 4: 45,915,703–45,915,836, 134 basesExon 3: 45,916,227–45,916,303, 77 basesExon 2: 45,917,458–45,917,493, 36 basesExon 1: 45,917,700–45,917,877, 178 bases11109876543215′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 1.7 kb of the gene's 8.2 kb; 1,011 of those bases code for the protein.

How a genome test reads PEX16

38

positions in PEX16 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 8.2 kb of PEX16, introns included, not only the 1.7 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.). PEX16 gene: peroxisomal biogenesis factor 16. Retrieved 17 October 2026, from https://dantelabs.com/genes/pex16

Vancouver

Dante Labs. PEX16 gene: peroxisomal biogenesis factor 16 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pex16

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