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Gene

PPOX

protoporphyrinogen oxidase

Summary

Cytogenetic location
1q23.3
Coordinates
Chromosome 1: 161,166,426–161,171,220 (GRCh38)
Exons
13 exons across 4.8 kb
Protein
477 amino acids
Also known as
PPO
Previous symbols
VP
MANE Select transcript
ENST00000367999.9NM_001122764.3
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

  • Hepatic Porphyria Disorders

    • Hepatic Porphyria

      A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.

      • ClinGen rates the link strong
      • 5 GenCC submitters rate it definitive or strong

  • Porphyria

    • Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS.

      • ClinGen rates the link strong
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Attack prevention through trigger avoidance, IV dextrose or hemin during acute attacks, RNA interference therapy (givosiran), genetic counseling

How PPOX is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 1, with a bracket where PPOX sits. PPOX and 36 genes near it on chromosome 1, from 160,668,823 to 161,668,822.Chromosome 11q23.3p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44160.8 Mb161 Mb161.2 Mb161.4 Mb161.6 MbCD48: 160,678,746–160,711,831, reverse strandCD48SLAMF7: 160,739,057–160,754,821, forward strandSLAMF7LY9: 160,796,071–160,828,601, forward strandLY9CD244: 160,829,075–160,862,904, reverse strandCD244ITLN1: 160,876,539–160,893,012, reverse strandITLN1ITLN2: 160,944,266–160,954,889, reverse strandITLN2F11R: 160,985,714–161,023,123, reverse strand: 160,997,957–161,038,962, reverse strandTSTD1: 161,037,619–161,039,118, reverse strandTSTD1USF1: 161,039,249–161,045,982, reverse strandUSF1ARHGAP30: 161,046,944–161,069,970, reverse strandARHGAP30NECTIN4: 161,070,988–161,090,045, reverse strandNECTIN4KLHDC9: 161,098,343–161,100,346, forward strandKLHDC9PFDN2: 161,100,556–161,118,070, reverse strandPFDN2NIT1: 161,118,082–161,125,812, forward strandDEDD: 161,120,957–161,133,280, reverse strandUFC1: 161,152,776–161,159,368, forward strandUFC1USP21: 161,159,450–161,165,723, forward strandUSP21PPOX: 161,166,426–161,171,220, forward strandPPOXB4GALT3: 161,171,304–161,178,652, reverse strandB4GALT3ADAMTS4: 161,184,302–161,200,509, reverse strandNDUFS2: 161,197,104–161,214,723, forward strandFCER1G: 161,215,175–161,220,709, forward strandFCER1GAPOA2: 161,222,290–161,227,266, reverse strandTOMM40L: 161,225,939–161,233,755, forward strandNR1I3: 161,228,775–161,238,276, reverse strandNR1I3PCP4L1: 161,258,136–161,285,450, forward strandPCP4L1MPZ: 161,304,735–161,309,974, reverse strandMPZSDHC: 161,314,352–161,363,774, forward strandSDHCCFAP126: 161,364,733–161,367,885, reverse strandCFAP126FCGR2A: 161,505,415–161,524,013, forward strandFCGR2AHSPA6: 161,524,540–161,526,894, forward strandHSPA6FCGR3A: 161,541,738–161,550,968, reverse strandFCGR3A: 161,544,807–161,631,456, reverse strandFCGR2C: 161,581,339–161,605,662, forward strandFCGR2CFCGR3B: 161,623,193–161,631,963, reverse strandFCGR3BFCGR2B: 161,661,958–161,679,490, forward strandFCGR2BDiagram of PPOX: 13 exons on the forward strand of chromosome 1Exon 1: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 3: 4 known disease-causing sitesExon 4: 1 known disease-causing siteExon 5: 5 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 7: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 1: 161,166,426–161,166,672, 247 basesExon 2: 161,166,840–161,166,934, 95 basesExon 3: 161,167,100–161,167,234, 135 basesExon 4: 161,167,371–161,167,486, 116 basesExon 5: 161,167,995–161,168,127, 133 basesExon 6: 161,168,432–161,168,576, 145 basesExon 7: 161,168,993–161,169,183, 191 basesExon 8: 161,169,660–161,169,720, 61 basesExon 9: 161,169,906–161,170,024, 119 basesExon 10: 161,170,409–161,170,519, 111 basesExon 11: 161,170,620–161,170,769, 150 basesExon 12: 161,170,907–161,170,949, 43 basesExon 13: 161,171,034–161,171,220, 187 bases123456789101112135′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 1.7 kb of the gene's 4.8 kb; 1,434 of those bases code for the protein.

How a genome test reads PPOX

22

positions in PPOX 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 4.8 kb of PPOX, introns included, not only the 1.7 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.). PPOX gene: protoporphyrinogen oxidase. Retrieved 16 October 2026, from https://dantelabs.com/genes/ppox

Vancouver

Dante Labs. PPOX gene: protoporphyrinogen oxidase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ppox

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