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Gene

PEX19

peroxisomal biogenesis factor 19

Summary

Cytogenetic location
1q23.2
Coordinates
Chromosome 1: 160,276,807–160,285,133 (GRCh38)
Exons
8 exons across 8.3 kb
Protein
299 amino acids
Inheritance
Autosomal recessive
Also known as
HK33, D1S2223E, PMP1, PMPI, PXMP1
Previous symbols
PXF
MANE Select transcript
ENST00000368072.10NM_002857.4
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
      • 3 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
      • 3 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 PEX19 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where PEX19 sits. PEX19 and 28 genes near it on chromosome 1, from 159,780,970 to 160,780,969.Chromosome 11q23.2p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44159.8 Mb160 Mb160.2 Mb160.4 Mb160.6 MbDUSP23: 159,780,931–159,782,543, forward strandDUSP23FCRL6: 159,800,503–159,816,262, forward strandFCRL6SLAMF8: 159,826,682–159,837,492, forward strandSLAMF8: 159,834,474–159,873,053, reverse strandVSIG8: 159,854,316–159,862,657, reverse strandVSIG8CFAP45: 159,872,364–159,900,165, reverse strandCFAP45TAGLN2: 159,918,106–159,925,546, reverse strandTAGLN2IGSF9: 159,927,039–159,949,468, reverse strandIGSF9SLAMF9: 159,951,492–159,954,237, reverse strandSLAMF9KCNJ10: 159,998,651–160,070,483, reverse strandKCNJ10PIGM: 160,024,953–160,031,990, reverse strandPIGMKCNJ9: 160,081,501–160,094,277, forward strandKCNJ9IGSF8: 160,091,340–160,101,109, reverse strandIGSF8ATP1A2: 160,115,755–160,143,605, forward strandATP1A2ATP1A4: 160,151,586–160,187,593, forward strandATP1A4CASQ1: 160,190,212–160,201,886, forward strandCASQ1PEA15: 160,205,328–160,220,335, forward strandPEA15DCAF8: 160,214,840–160,263,388, reverse strandDCAF8: 160,216,800–160,285,130, reverse strandPEX19: 160,276,807–160,285,133, reverse strandPEX19COPA: 160,288,580–160,343,566, reverse strandCOPANCSTN: 160,343,294–160,358,957, forward strandNCSTNNHLH1: 160,367,071–160,372,846, forward strandNHLH1VANGL2: 160,400,528–160,428,678, forward strandVANGL2SLAMF6: 160,484,817–160,523,273, reverse strandSLAMF6CD84: 160,541,095–160,579,544, reverse strandCD84SLAMF1: 160,608,100–160,647,056, reverse strandSLAMF1CD48: 160,678,746–160,711,831, reverse strandCD48SLAMF7: 160,739,057–160,754,821, forward strandSLAMF7Diagram of PEX19: 8 exons on the reverse strand of chromosome 1Exon 6: 1 known disease-causing siteExon 5: 3 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 1: 1 known disease-causing siteExon 8: 160,276,807–160,279,634, 2,828 basesExon 7: 160,279,801–160,279,845, 45 basesExon 6: 160,280,070–160,280,246, 177 basesExon 5: 160,282,039–160,282,200, 162 basesExon 4: 160,282,417–160,282,502, 86 basesExon 3: 160,282,944–160,283,109, 166 basesExon 2: 160,283,530–160,283,639, 110 basesExon 1: 160,285,055–160,285,133, 79 bases876543215′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 3.7 kb of the gene's 8.3 kb; 900 of those bases code for the protein.

How a genome test reads PEX19

21

positions in PEX19 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 8.3 kb of PEX19, introns included, not only the 3.7 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.). PEX19 gene: peroxisomal biogenesis factor 19. Retrieved 16 October 2026, from https://dantelabs.com/genes/pex19

Vancouver

Dante Labs. PEX19 gene: peroxisomal biogenesis factor 19 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pex19

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