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Gene

PEX7

peroxisomal biogenesis factor 7

Summary

Cytogenetic location
6q23.3
Coordinates
Chromosome 6: 136,822,592–136,913,934 (GRCh38)
Exons
10 exons across 91.3 kb
Protein
323 amino acids
Inheritance
Autosomal recessive
Also known as
PTS2R, RD
MANE Select transcript
ENST00000318471.5NM_000288.4
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
      • 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 PEX7 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 6, with a bracket where PEX7 sits. PEX7 and 6 genes near it on chromosome 6, from 136,368,263 to 137,368,262.Chromosome 66q23.3p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q27136.4 Mb136.6 Mb136.8 Mb137 Mb137.2 MbMAP7: 136,341,002–136,550,868, reverse strandMAP7MAP3K5: 136,557,030–136,793,103, reverse strandMAP3K5PEX7: 136,822,592–136,913,934, forward strandPEX7SLC35D3: 136,921,923–136,925,660, forward strandSLC35D3IL20RA: 136,999,971–137,045,180, reverse strandIL20RAIL22RA2: 137,143,820–137,173,648, reverse strandIL22RA2IFNGR1: 137,197,483–137,219,449, reverse strandIFNGR1Diagram of PEX7: 10 exons on the forward strand of chromosome 6Exon 1: 30 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 3: 20 known disease-causing sitesExon 4: 9 known disease-causing sitesExon 5: 13 known disease-causing sitesExon 6: 12 known disease-causing sitesExon 7: 13 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 9: 9 known disease-causing sitesExon 1: 136,822,592–136,822,795, 204 basesExon 2: 136,825,214–136,825,271, 58 basesExon 3: 136,826,319–136,826,469, 151 basesExon 4: 136,845,615–136,845,692, 78 basesExon 5: 136,846,073–136,846,181, 109 basesExon 6: 136,866,627–136,866,733, 107 basesExon 7: 136,869,890–136,870,003, 114 basesExon 8: 136,872,198–136,872,253, 56 basesExon 9: 136,898,142–136,898,241, 100 basesExon 10: 136,913,458–136,913,934, 477 bases12468105′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 1.5 kb of the gene's 91.3 kb; 972 of those bases code for the protein.

How a genome test reads PEX7

134

positions in PEX7 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 91.3 kb of PEX7, introns included, not only the 1.5 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.). PEX7 gene: peroxisomal biogenesis factor 7. Retrieved 16 October 2026, from https://dantelabs.com/genes/pex7

Vancouver

Dante Labs. PEX7 gene: peroxisomal biogenesis factor 7 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pex7

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