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Gene

PEX10

peroxisomal biogenesis factor 10

Summary

Cytogenetic location
1p36.32
Coordinates
Chromosome 1: 2,403,974–2,412,564 (GRCh38)
Exons
6 exons across 8.6 kb
Protein
326 amino acids
Inheritance
Autosomal recessive
Also known as
RNF69
MANE Select transcript
ENST00000447513.7NM_002617.4
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 PEX10 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 1, with a bracket where PEX10 sits. PEX10 and 16 genes near it on chromosome 1, from 1,908,269 to 2,908,268.Chromosome 11p36.32p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q442 Mb2.2 Mb2.4 Mb2.6 Mb2.8 MbCALML6: 1,915,081–1,917,296, forward strandCALML6TMEM52: 1,917,589–1,919,329, reverse strandTMEM52CFAP74: 1,921,951–2,003,837, reverse strandCFAP74GABRD: 2,019,305–2,030,758, forward strandGABRDPRKCZ: 2,050,396–2,185,721, forward strandPRKCZFAAP20: 2,184,411–2,212,720, reverse strandFAAP20SKI: 2,227,388–2,310,213, forward strandSKIMORN1: 2,319,208–2,391,722, reverse strandMORN1RER1: 2,390,670–2,405,444, forward strandRER1PEX10: 2,403,974–2,412,564, reverse strandPEX10PLCH2: 2,425,980–2,505,807, forward strandPLCH2PANK4: 2,508,531–2,526,617, reverse strandPANK4HES5: 2,528,745–2,530,271, reverse strandHES5TNFRSF14: 2,554,244–2,565,382, forward strandTNFRSF14PRXL2B: 2,586,491–2,591,470, forward strandPRXL2BMMEL1: 2,590,639–2,633,019, reverse strandMMEL1TTC34: 2,636,986–2,801,693, reverse strandTTC34Diagram of PEX10: 6 exons on the reverse strand of chromosome 1Exon 6: 1 known disease-causing siteExon 5: 14 known disease-causing sitesExon 4: 10 known disease-causing sitesExon 3: 41 known disease-causing sitesExon 2: 7 known disease-causing sitesExon 1: 18 known disease-causing sitesExon 6: 2,403,974–2,405,834, 1,861 basesExon 5: 2,406,484–2,406,619, 136 basesExon 4: 2,406,720–2,406,895, 176 basesExon 3: 2,408,452–2,408,858, 407 basesExon 2: 2,410,371–2,410,451, 81 basesExon 1: 2,412,391–2,412,564, 174 bases6543215′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 2.8 kb of the gene's 8.6 kb; 981 of those bases code for the protein.

How a genome test reads PEX10

105

positions in PEX10 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 8.6 kb of PEX10, introns included, not only the 2.8 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.). PEX10 gene: peroxisomal biogenesis factor 10. Retrieved 16 October 2026, from https://dantelabs.com/genes/pex10

Vancouver

Dante Labs. PEX10 gene: peroxisomal biogenesis factor 10 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pex10

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