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Gene

HPD

4-hydroxyphenylpyruvate dioxygenase

Summary

Cytogenetic location
12q24.31
Coordinates
Chromosome 12: 121,839,527–121,858,859 (GRCh38)
Exons
14 exons across 19.3 kb
Protein
393 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
4-HPPD, 4HPPD, GLOD3, HPPD
Previous symbols
PPD
MANE Select transcript
ENST00000289004.8NM_002150.3
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 report relevant to this gene

  • Tyrosinemia

    • HawkinsinuriaAutosomal dominant

      Caused by variants in HPD, which affect tyrosine breakdown and can cause metabolic acidosis and poor growth in infancy, usually improving with age.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing explains abnormal tyrosine metabolites and allows dietary advice in infancy.

    • Autosomal recessive

      An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs.

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

      Nitisinone (NTBC/Orfadin) lifelong; tyrosine and phenylalanine-restricted diet; AFP and liver MRI surveillance for HCC; liver transplantation for nitisinone-refractory disease or HCC; renal monitoring

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
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 HPD is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where HPD sits. HPD and 21 genes near it on chromosome 12, from 121,349,193 to 122,349,192.Chromosome 1212q24.31p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.33121.4 Mb121.6 Mb121.8 Mb122 Mb122.2 MbANAPC5: 121,308,243–121,399,896, reverse strandANAPC5RNF34: 121,400,078–121,446,466, forward strandRNF34KDM2B: 121,429,096–121,582,286, reverse strandKDM2BORAI1: 121,626,509–121,643,109, forward strandORAI1MORN3: 121,648,742–121,672,656, reverse strandMORN3TMEM120B: 121,712,725–121,783,001, forward strandTMEM120BRHOF: 121,768,283–121,803,403, reverse strandRHOFSETD1B: 121,803,858–121,832,656, forward strandSETD1BHPD: 121,839,527–121,858,859, reverse strandHPDPSMD9: 121,888,725–121,918,297, forward strandPSMD9: 121,888,809–121,921,470, forward strandCFAP251: 121,918,555–122,003,927, forward strandCFAP251BCL7A: 122,019,422–122,062,044, forward strandBCL7AMLXIP: 122,078,666–122,147,344, forward strandMLXIPLRRC43: 122,167,738–122,203,471, forward strandLRRC43IL31: 122,172,029–122,174,221, reverse strandIL31B3GNT4: 122,203,681–122,208,952, forward strandB3GNT4DIABLO: 122,207,394–122,226,083, reverse strandDIABLO: 122,207,662–122,227,534, reverse strand: 122,207,779–122,266,423, reverse strandVPS33A: 122,229,564–122,266,502, reverse strandCLIP1: 122,271,432–122,422,778, reverse strandCLIP1Diagram of HPD: 14 exons on the reverse strand of chromosome 12Exon 12: 3 known disease-causing sitesExon 10: 4 known disease-causing sitesExon 9: 1 known disease-causing siteExon 8: 3 known disease-causing sitesExon 7: 1 known disease-causing siteExon 6: 4 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 5 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 14: 121,839,527–121,839,838, 312 basesExon 13: 121,839,932–121,840,048, 117 basesExon 12: 121,843,710–121,843,832, 123 basesExon 11: 121,846,862–121,846,933, 72 basesExon 10: 121,847,052–121,847,214, 163 basesExon 9: 121,848,999–121,849,076, 78 basesExon 8: 121,849,687–121,849,790, 104 basesExon 7: 121,854,703–121,854,792, 90 basesExon 6: 121,856,324–121,856,406, 83 basesExon 5: 121,856,583–121,856,625, 43 basesExon 4: 121,857,328–121,857,432, 105 basesExon 3: 121,857,757–121,857,819, 63 basesExon 2: 121,858,687–121,858,713, 27 basesExon 1: 121,858,821–121,858,859, 39 bases1410515′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 1.4 kb of the gene's 19.3 kb; 1,182 of those bases code for the protein.

How a genome test reads HPD

33

positions in HPD 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 19.3 kb of HPD, introns included, not only the 1.4 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.). HPD gene: 4-hydroxyphenylpyruvate dioxygenase. Retrieved 16 October 2026, from https://dantelabs.com/genes/hpd

Vancouver

Dante Labs. HPD gene: 4-hydroxyphenylpyruvate dioxygenase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/hpd

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