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Gene

QDPR

quinoid dihydropteridine reductase

Summary

Cytogenetic location
4p15.32
Coordinates
Chromosome 4: 17,486,395–17,512,090 (GRCh38)
Exons
7 exons across 25.7 kb
Protein
244 amino acids
Also known as
DHPR, PKU2, SDR33C1
MANE Select transcript
ENST00000281243.10NM_000320.3
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • BH4 Deficiency & Monoamine Neurotransmitter Disorders

    • Hyperphenylalaninemia due to BH4 DeficiencyAutosomal recessive

      Caused by variants in PTS, QDPR, PCBD1 or GCH1, which raise phenylalanine and reduce dopamine and serotonin, leading to movement problems, seizures and developmental delay.

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

      Knowing allows treatment with BH4, neurotransmitter precursors (L-dopa, 5-hydroxytryptophan) and folinic acid where needed.

How QDPR is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 4, with a bracket where QDPR sits. QDPR and 7 genes near it on chromosome 4, from 16,999,243 to 17,999,242.Chromosome 44p15.32p16.3p16.2p16.1p15.33p15.32p15.31p15.2p15.1p14p13p12p11q11q12q13.1q13.2q13.3q21.1q21.21q21.22q21.23q21.3q22.1q22.2q22.3q23q24q25q26q27q28.1q28.2q28.3q31.1q31.21q31.22q31.23q31.3q32.1q32.2q32.3q33q34.1q34.2q34.3q35.1q35.217 Mb17.2 Mb17.4 Mb17.6 Mb17.8 MbQDPR: 17,486,395–17,512,090, reverse strandQDPRCLRN2: 17,515,165–17,527,104, forward strandCLRN2LAP3: 17,577,167–17,608,089, forward strandLAP3MED28: 17,614,586–17,654,143, forward strandMED28FAM184B: 17,629,306–17,781,627, reverse strandFAM184BDCAF16: 17,793,446–17,810,758, reverse strandDCAF16NCAPG: 17,810,844–17,848,064, forward strandNCAPGLCORL: 17,841,187–18,021,993, reverse strandLCORLDiagram of QDPR: 7 exons on the reverse strand of chromosome 4Exon 7: 4 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 5: 10 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 1: 9 known disease-causing sitesExon 7: 17,486,395–17,487,236, 842 basesExon 6: 17,490,662–17,490,745, 84 basesExon 5: 17,492,232–17,492,340, 109 basesExon 4: 17,501,719–17,501,859, 141 basesExon 3: 17,504,379–17,504,475, 97 basesExon 2: 17,509,271–17,509,363, 93 basesExon 1: 17,511,950–17,512,090, 141 bases76543215′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 1.5 kb of the gene's 25.7 kb; 735 of those bases code for the protein.

Sequencing QDPR

47

positions in QDPR 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 25.7 kb of QDPR, introns included, not only the 1.5 kb of exons.

Genes linked to the same conditions

Traits linked to QDPR

The Human Phenotype Ontology lists these as features of the rare conditions QDPR can cause. Each trait's page lists the other genes linked to it.

External links

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.). QDPR gene: quinoid dihydropteridine reductase. Retrieved 17 October 2026, from https://dantelabs.com/genes/qdpr

Vancouver

Dante Labs. QDPR gene: quinoid dihydropteridine reductase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/qdpr

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