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Gene

PEX1

peroxisomal biogenesis factor 1

Summary

Cytogenetic location
7q21.2
Coordinates
Chromosome 7: 92,487,025–92,528,520 (GRCh38)
Exons
24 exons across 41.5 kb
Protein
1,283 amino acids
Inheritance
Autosomal recessive
Previous symbols
ZWS1, ZWS
MANE Select transcript
ENST00000248633.9NM_000466.3
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
      • 7 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
      • 7 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 PEX1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where PEX1 sits. PEX1 and 13 genes near it on chromosome 7, from 92,007,773 to 93,007,772.Chromosome 77q21.2p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.392.2 Mb92.4 Mb92.6 Mb92.8 Mb93 MbAKAP9: 91,940,837–92,112,177, forward strandAKAP9CYP51A1: 92,084,502–92,134,803, reverse strand: 92,112,159–92,179,511, reverse strand: 92,112,176–92,245,924, reverse strandLRRD1: 92,141,643–92,179,531, reverse strandLRRD1: 92,144,723–92,245,943, reverse strandKRIT1: 92,197,498–92,246,166, reverse strandKRIT1ANKIB1: 92,245,960–92,402,070, forward strandANKIB1GATAD1: 92,447,448–92,460,075, forward strandGATAD1ERVW-1: 92,468,380–92,477,986, reverse strandERVW-1PEX1: 92,487,025–92,528,520, reverse strandPEX1RBM48: 92,528,770–92,540,481, forward strandRBM48FAM133B: 92,560,654–92,590,417, reverse strandFAM133BCDK6: 92,604,921–92,837,004, reverse strandCDK6Diagram of PEX1: 24 exons on the reverse strand of chromosome 7Exon 23: 7 known disease-causing sitesExon 22: 17 known disease-causing sitesExon 21: 24 known disease-causing sitesExon 20: 15 known disease-causing sitesExon 19: 11 known disease-causing sitesExon 18: 17 known disease-causing sitesExon 17: 4 known disease-causing sitesExon 16: 9 known disease-causing sitesExon 15: 18 known disease-causing sitesExon 14: 15 known disease-causing sitesExon 13: 15 known disease-causing sitesExon 12: 17 known disease-causing sitesExon 11: 18 known disease-causing sitesExon 10: 17 known disease-causing sitesExon 9: 6 known disease-causing sitesExon 8: 7 known disease-causing sitesExon 7: 13 known disease-causing sitesExon 6: 6 known disease-causing sitesExon 5: 79 known disease-causing sitesExon 4: 8 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 2: 10 known disease-causing sitesExon 1: 12 known disease-causing sitesExon 24: 92,487,025–92,487,541, 517 basesExon 23: 92,489,293–92,489,423, 131 basesExon 22: 92,489,714–92,489,911, 198 basesExon 21: 92,491,272–92,491,502, 231 basesExon 20: 92,492,953–92,493,129, 177 basesExon 19: 92,494,293–92,494,396, 104 basesExon 18: 92,494,487–92,494,629, 143 basesExon 17: 92,496,713–92,496,777, 65 basesExon 16: 92,499,704–92,499,838, 135 basesExon 15: 92,501,507–92,501,673, 167 basesExon 14: 92,501,890–92,502,079, 190 basesExon 13: 92,503,041–92,503,195, 155 basesExon 12: 92,504,732–92,504,902, 171 basesExon 11: 92,506,248–92,506,344, 97 basesExon 10: 92,506,994–92,507,126, 133 basesExon 9: 92,509,329–92,509,411, 83 basesExon 8: 92,510,944–92,511,047, 104 basesExon 7: 92,511,580–92,511,703, 124 basesExon 6: 92,513,848–92,513,967, 120 basesExon 5: 92,517,276–92,518,042, 767 basesExon 4: 92,518,141–92,518,255, 115 basesExon 3: 92,518,995–92,519,078, 84 basesExon 2: 92,522,102–92,522,245, 144 basesExon 1: 92,528,307–92,528,520, 214 bases2422201816141210864215′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 4.4 kb of the gene's 41.5 kb; 3,852 of those bases code for the protein.

How a genome test reads PEX1

397

positions in PEX1 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 41.5 kb of PEX1, introns included, not only the 4.4 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.). PEX1 gene: peroxisomal biogenesis factor 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/pex1

Vancouver

Dante Labs. PEX1 gene: peroxisomal biogenesis factor 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pex1

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