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Gene

PEX12

peroxisomal biogenesis factor 12

Summary

Cytogenetic location
17q12
Coordinates
Chromosome 17: 35,574,795–35,578,571 (GRCh38)
Exons
3 exons across 3.8 kb
Protein
359 amino acids
Inheritance
Autosomal recessive
MANE Select transcript
ENST00000225873.9NM_000286.3
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
      • 5 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
      • 5 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 PEX12 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 17, with a bracket where PEX12 sits. PEX12 and 29 genes near it on chromosome 17, from 35,076,683 to 36,076,682.Chromosome 1717q12p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.335.2 Mb35.4 Mb35.6 Mb35.8 Mb36 MbRFFL: 35,005,990–35,089,899, reverse strandRFFL: 35,011,349–35,121,493, reverse strandRAD51D: 35,092,221–35,121,522, reverse strandRAD51DFNDC8: 35,121,615–35,130,732, forward strandFNDC8NLE1: 35,125,556–35,142,313, reverse strandNLE1UNC45B: 35,146,495–35,189,346, forward strandUNC45BSLC35G3: 35,192,520–35,194,393, reverse strandSLC35G3SLFN5: 35,243,043–35,273,655, forward strandSLFN5SLFN11: 35,350,305–35,373,701, reverse strandSLFN11SLFN12: 35,409,339–35,433,475, reverse strandSLFN12SLFN13: 35,435,096–35,449,766, reverse strandSLFN13SLFN12L: 35,464,249–35,537,770, reverse strandSLFN12LSLFN14: 35,543,985–35,560,819, reverse strandSLFN14PEX12: 35,574,795–35,578,571, reverse strandPEX12AP2B1: 35,578,046–35,726,417, forward strandAP2B1RASL10B: 35,731,639–35,743,521, forward strandRASL10BGAS2L2: 35,744,511–35,753,260, reverse strandGAS2L2MMP28: 35,756,249–35,795,719, reverse strandMMP28PGBDF: 35,760,887–35,765,079, forward strandPGBDFTAF15: 35,809,475–35,864,615, forward strandTAF15HEATR9: 35,854,946–35,868,891, reverse strandHEATR9CCL5: 35,871,491–35,880,793, reverse strandCCL5RDM1: 35,918,066–35,930,794, reverse strandRDM1LYZL6: 35,934,518–35,943,713, reverse strandLYZL6CCL16: 35,976,192–35,981,580, reverse strandCCL16CCL14: 35,983,288–35,987,033, reverse strandCCL14CCL15-CCL14: 35,983,656–36,001,621, reverse strandCCL15-CCL14CCL15: 35,988,463–36,002,119, reverse strandCCL15CCL23: 36,013,056–36,017,979, reverse strandCCL18: 36,064,228–36,072,032, forward strandCCL18Diagram of PEX12: 3 exons on the reverse strand of chromosome 17Exon 3: 32 known disease-causing sitesExon 2: 50 known disease-causing sitesExon 1: 14 known disease-causing sitesExon 3: 35,574,795–35,576,181, 1,387 basesExon 2: 35,577,038–35,577,591, 554 basesExon 1: 35,577,896–35,578,571, 676 bases3215′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 2.6 kb of the gene's 3.8 kb; 1,080 of those bases code for the protein.

How a genome test reads PEX12

101

positions in PEX12 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 3.8 kb of PEX12, introns included, not only the 2.6 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.). PEX12 gene: peroxisomal biogenesis factor 12. Retrieved 16 October 2026, from https://dantelabs.com/genes/pex12

Vancouver

Dante Labs. PEX12 gene: peroxisomal biogenesis factor 12 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pex12

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