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Gene

PEX5

peroxisomal biogenesis factor 5

Summary

Cytogenetic location
12p13.31
Coordinates
Chromosome 12: 7,189,686–7,211,459 (GRCh38)
Exons
16 exons across 21.8 kb
Protein
639 amino acids
Inheritance
Autosomal recessive
Also known as
PTS1R
Previous symbols
PXR1
MANE Select transcript
ENST00000675855.1NM_001351132.2
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 PEX5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where PEX5 sits. PEX5 and 33 genes near it on chromosome 12, from 6,700,573 to 7,700,572.Chromosome 1212p13.31p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.336.8 Mb7 Mb7.2 Mb7.4 Mb7.6 MbPIANP: 6,693,791–6,700,859, reverse strandPIANPCOPS7A: 6,724,014–6,732,462, forward strandCOPS7AMLF2: 6,747,986–6,768,932, reverse strandMLF2PTMS: 6,765,516–6,770,952, forward strandPTMSLAG3: 6,772,360–6,778,455, forward strandLAG3CD4: 6,786,858–6,820,807, forward strandCD4GPR162: 6,821,624–6,829,972, forward strandP3H3: 6,828,220–6,839,867, forward strandGNB3: 6,839,954–6,847,393, forward strandCDCA3: 6,844,723–6,852,353, reverse strandUSP5: 6,852,098–6,866,632, forward strandUSP5TPI1: 6,867,119–6,878,513, forward strandTPI1SPSB2: 6,870,934–6,889,358, reverse strandSPSB2LRRC23: 6,873,455–6,914,243, forward strandLRRC23ENO2: 6,913,745–6,923,970, forward strandENO2ATN1: 6,924,454–6,942,322, forward strandATN1C12orf57: 6,942,919–6,946,009, forward strandRNU7-1: 6,943,816–6,943,878, forward strandPTPN6: 6,946,417–6,961,316, forward strandPHB2: 6,965,327–6,970,841, reverse strandEMG1: 6,970,765–6,979,939, forward strandEMG1: 6,970,921–6,997,428, forward strandLPCAT3: 6,972,027–7,018,779, reverse strandLPCAT3C1S: 6,988,259–7,071,281, forward strandC1SC1R: 7,080,213–7,092,873, reverse strandC1RC1RL: 7,089,587–7,109,245, reverse strandC1RLRBP5: 7,115,736–7,128,891, reverse strandRBP5CLSTN3: 7,128,077–7,158,945, forward strandCLSTN3PEX5: 7,189,686–7,211,459, forward strandPEX5ACSM4: 7,304,072–7,328,719, forward strandACSM4CD163L1: 7,346,685–7,479,897, reverse strandCD163L1CD163: 7,469,417–7,503,911, reverse strandCD163APOBEC1: 7,649,400–7,665,908, reverse strandAPOBEC1GDF3: 7,689,784–7,695,807, reverse strandGDF3Diagram of PEX5: 16 exons on the forward strand of chromosome 12Exon 2: 9 known disease-causing sitesExon 4: 1 known disease-causing siteExon 5: 5 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 8: 9 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 10: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 13: 10 known disease-causing sitesExon 14: 8 known disease-causing sitesExon 15: 3 known disease-causing sitesExon 16: 2 known disease-causing sitesExon 1: 7,189,686–7,189,750, 65 basesExon 2: 7,190,362–7,190,524, 163 basesExon 3: 7,190,888–7,190,923, 36 basesExon 4: 7,191,226–7,191,358, 133 basesExon 5: 7,191,569–7,191,700, 132 basesExon 6: 7,199,011–7,199,113, 103 basesExon 7: 7,201,751–7,201,841, 91 basesExon 8: 7,202,241–7,202,351, 111 basesExon 9: 7,202,612–7,202,704, 93 basesExon 10: 7,203,432–7,203,551, 120 basesExon 11: 7,207,659–7,207,802, 144 basesExon 12: 7,208,010–7,208,080, 71 basesExon 13: 7,208,457–7,208,669, 213 basesExon 14: 7,209,005–7,209,170, 166 basesExon 15: 7,209,683–7,209,840, 158 basesExon 16: 7,210,022–7,211,459, 1,438 bases12468101214165′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 3.2 kb of the gene's 21.8 kb; 1,920 of those bases code for the protein.

How a genome test reads PEX5

75

positions in PEX5 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 21.8 kb of PEX5, introns included, not only the 3.2 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.). PEX5 gene: peroxisomal biogenesis factor 5. Retrieved 16 October 2026, from https://dantelabs.com/genes/pex5

Vancouver

Dante Labs. PEX5 gene: peroxisomal biogenesis factor 5 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pex5

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