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Gene

PEX6

peroxisomal biogenesis factor 6

Summary

Cytogenetic location
6p21.1
Coordinates
Chromosome 6: 42,963,865–42,979,181 (GRCh38)
Exons
17 exons across 15.3 kb
Protein
980 amino acids
Inheritance
Autosomal recessive
Also known as
PXAAA1, PAF-2
MANE Select transcript
ENST00000304611.13NM_000287.4
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
      • 6 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

  • Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)

    • Autosomal Recessive Cerebellar AtaxiaAutosomal recessive

      One of 57 genes linked to it

      A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.

  • 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
      • 6 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 PEX6 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 PEX6 sits. PEX6 and 27 genes near it on chromosome 6, from 42,471,523 to 43,471,522.Chromosome 66p21.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2742.6 Mb42.8 Mb43 Mb43.2 Mb43.4 MbUBR2: 42,563,969–42,693,505, forward strandUBR2PRPH2: 42,696,598–42,722,621, reverse strandPRPH2TBCC: 42,744,498–42,746,103, reverse strandTBCCBICRAL: 42,781,931–42,868,560, forward strandBICRALRPL7L1: 42,879,602–42,889,925, forward strandRPL7L1PEX39: 42,890,265–42,890,821, reverse strandPEX39PTCRA: 42,915,989–42,925,845, forward strandPTCRACNPY3: 42,928,975–42,940,217, forward strandCNPY3GNMT: 42,960,268–42,970,699, forward strandGNMTPEX6: 42,963,865–42,979,181, reverse strandPEX6PPP2R5D: 42,984,533–43,012,346, forward strandPPP2R5DMEA1: 43,011,143–43,016,868, reverse strandMEA1KLHDC3: 43,014,103–43,021,314, forward strandKLHDC3RRP36: 43,021,588–43,034,156, forward strandRRP36CUL7: 43,037,617–43,053,943, reverse strandKLC4: 43,040,777–43,075,099, forward strand: 43,051,066–43,058,185, reverse strandMRPL2: 43,054,029–43,059,464, reverse strandPTK7: 43,076,256–43,161,719, forward strandPTK7SRF: 43,170,910–43,181,506, forward strandSRFCUL9: 43,182,166–43,224,587, forward strandCUL9DNPH1: 43,225,629–43,229,490, reverse strandDNPH1TTBK1: 43,243,481–43,288,258, forward strandTTBK1SLC22A7: 43,295,694–43,305,543, forward strandSLC22A7CRIP3: 43,299,710–43,308,878, reverse strandCRIP3ZNF318: 43,307,134–43,369,687, reverse strandZNF318ABCC10: 43,427,366–43,451,783, forward strandABCC10DLK2: 43,450,351–43,456,632, reverse strandDLK2Diagram of PEX6: 17 exons on the reverse strand of chromosome 6Exon 16: 7 known disease-causing sitesExon 15: 6 known disease-causing sitesExon 14: 7 known disease-causing sitesExon 13: 10 known disease-causing sitesExon 12: 9 known disease-causing sitesExon 11: 18 known disease-causing sitesExon 10: 9 known disease-causing sitesExon 9: 7 known disease-causing sitesExon 8: 17 known disease-causing sitesExon 7: 14 known disease-causing sitesExon 6: 7 known disease-causing sitesExon 5: 19 known disease-causing sitesExon 4: 12 known disease-causing sitesExon 3: 10 known disease-causing sitesExon 2: 16 known disease-causing sitesExon 1: 65 known disease-causing sitesExon 17: 42,963,865–42,964,471, 607 basesExon 16: 42,964,790–42,964,929, 140 basesExon 15: 42,965,075–42,965,152, 78 basesExon 14: 42,965,252–42,965,368, 117 basesExon 13: 42,965,681–42,965,789, 109 basesExon 12: 42,966,044–42,966,105, 62 basesExon 11: 42,966,242–42,966,447, 206 basesExon 10: 42,966,525–42,966,657, 133 basesExon 9: 42,966,782–42,966,858, 77 basesExon 8: 42,967,368–42,967,563, 196 basesExon 7: 42,968,290–42,968,498, 209 basesExon 6: 42,968,874–42,968,985, 112 basesExon 5: 42,969,668–42,969,801, 134 basesExon 4: 42,969,885–42,969,987, 103 basesExon 3: 42,974,003–42,974,086, 84 basesExon 2: 42,974,875–42,975,038, 164 basesExon 1: 42,978,269–42,979,181, 913 bases1716141210864215′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 3.4 kb of the gene's 15.3 kb; 2,943 of those bases code for the protein.

How a genome test reads PEX6

273

positions in PEX6 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 15.3 kb of PEX6, introns included, not only the 3.4 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.). PEX6 gene: peroxisomal biogenesis factor 6. Retrieved 16 October 2026, from https://dantelabs.com/genes/pex6

Vancouver

Dante Labs. PEX6 gene: peroxisomal biogenesis factor 6 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pex6

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