QDPR Gene

HGNC Family	Short chain dehydrogenase/reductase superfamily (SDR)
Name	quinoid dihydropteridine reductase
Description	This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nQuinonoid dihydropteridine reductase (QDPR) is a critical enzyme responsible for recycling tetrahydrobiopterin (BH4), the essential cofactor for aromatic amino acid hydroxylases and nitric oxide synthases, thereby influencing neurotransmitter synthesis and cellular redox homeostasis. Under low levels of hydrogen peroxide, QDPR activity is enhanced, whereas higher concentrations oxidize key methionine residues and impair enzyme function ["}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "]. Clinically, QDPR deficiency disrupts BH4 recycling and manifests as a variant form of phenylketonuria characterized by severe neurological symptoms such as mental retardation and hypokinesis ["}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "]. In addition, preliminary genetic association studies have implicated QDPR variants in neuropsychiatric conditions including bipolar disorder ["}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "], while screening of patients with dopa-responsive dystonia has underscored the enzyme’s conserved role in BH4 metabolism by revealing no mutations in this gene ["}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "].\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMolecular analyses have further elucidated the mutation spectrum of QDPR, refining genotype–phenotype correlations in patients with its deficiency ["}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "]. Moreover, variants in QDPR are emerging as candidate risk factors for neurodegenerative disorders such as Parkinson’s disease, suggesting that disrupted BH4 homeostasis may contribute to disease pathogenesis ["}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "]. In cellular models, overexpression of wild‐type QDPR has been shown to suppress mTOR signaling and promote autophagy—an effect that is lost in pathogenic QDPR mutations—thereby providing protection against oxidative stress ["}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "]. Complementary studies in astrocytes have demonstrated that elevated QDPR expression is accompanied by an increase in inducible nitric oxide synthase (iNOS), linking the enzyme to neuroinflammatory pathways ["}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "].\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn silico analyses have identified several deleterious nonsynonymous SNPs in QDPR that are predicted to compromise its function and are associated with central nervous system disorders ["}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": "]. In a broader context, QDPR deficiency in pancreatic ductal adenocarcinomas has been shown to disturb the BH4/BH2 ratio, leading to increased reactive oxygen species production, epigenetic alterations at promoters of immune regulatory genes, and the recruitment of immunosuppressive myeloid-derived suppressor cells that contribute to resistance to immune checkpoint blockade therapy ["}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": "]. Together, these findings underscore the multifaceted role of QDPR in modulating neurotransmitter synthesis, oxidative stress responses, autophagy, and immune regulation, thereby highlighting its potential as a therapeutic target in a range of neurological and oncological disorders.\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Sybille Hasse, Nicholas C J Gibbons, Hartmut Rokos, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Perturbed 6-tetrahydrobiopterin recycling via decreased dihydropteridine reductase in vitiligo: more evidence for H2O2 stress."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Invest Dermatol (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1046/j.0022-202X.2004.22230.x"}], "href": "https://doi.org/10.1046/j.0022-202X.2004.22230.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15009710"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15009710"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "D Concolino, G Muzzi, M Rapsomaniki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Inherit Metab Dis (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10545-007-0788-3"}], "href": "https://doi.org/10.1007/s10545-007-0788-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18425437"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18425437"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Jiajun Shi, Judith A Badner, Eiji Hattori, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Neurotransmission and bipolar disorder: a systematic family-based association study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet B Neuropsychiatr Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.b.30769"}], "href": "https://doi.org/10.1002/ajmg.b.30769"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18444252"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18444252"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Fabienne Clot, David Grabli, Cécile Cazeneuve, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awp084"}], "href": "https://doi.org/10.1093/brain/awp084"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19491146"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19491146"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "De-Yun Lu, Jun Ye, Lian-Shu Han, et al. "}, {"type": "b", "children": [{"type": "t", "text": "QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "World J Pediatr (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s12519-014-0496-7"}], "href": "https://doi.org/10.1007/s12519-014-0496-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25124972"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25124972"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Charmaine Zahra, Christine Tabone, Graziella Camilleri, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic causes of Parkinson's disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Med Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12881-016-0327-x"}], "href": "https://doi.org/10.1186/s12881-016-0327-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27613114"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27613114"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Qin Si, Sifan Sun, Yanting Gu "}, {"type": "b", "children": [{"type": "t", "text": "A278C mutation of dihydropteridine reductase decreases autophagy via mTOR signaling."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Acta Biochim Biophys Sin (Shanghai) (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/abbs/gmx061"}], "href": "https://doi.org/10.1093/abbs/gmx061"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28633336"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28633336"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Swathine Chandrashekaran, Srija Karthikeyan, Arvind Balakrishnan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expression and Purification of Quinine Dihydro Pteridine Reductase from astrocytes and its significance in the astrocyte pathology."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Biol Macromol (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ijbiomac.2018.01.002"}], "href": "https://doi.org/10.1016/j.ijbiomac.2018.01.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29355631"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29355631"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Aishwarya Girish, Samruddhi Sutar, T P Krishna Murthy, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Comprehensive bioinformatics analysis of structural and functional consequences of deleterious missense mutations in the human QDPR gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biomol Struct Dyn (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1080/07391102.2023.2226740"}], "href": "https://doi.org/10.1080/07391102.2023.2226740"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37382215"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37382215"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Ji Liu, Xiaowei He, Shuang Deng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "QDPR deficiency drives immune suppression in pancreatic cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Metab (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cmet.2024.03.015"}], "href": "https://doi.org/10.1016/j.cmet.2024.03.015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38642552"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38642552"}]}]}]}
Synonyms	SDR33C1, HDHPR, DHPR, PKU2
Proteins	DHPR_HUMAN
NCBI Gene ID	5860
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

QDPR has 7,788 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 132 datasets.

Click the + buttons to view associations for QDPR from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

QDPR Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by QDPR gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of QDPR gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of QDPR gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of QDPR gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of QDPR gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of QDPR gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of QDPR gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of QDPR gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of QDPR gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of QDPR gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of QDPR gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of QDPR gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of QDPR gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with QDPR protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with QDPR gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of QDPR gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of QDPR gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of QDPR gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with QDPR gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with QDPR gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of QDPR gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing QDPR protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing QDPR protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing QDPR protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with QDPR protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with QDPR protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of QDPR gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with QDPR gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with QDPR gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with QDPR gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of QDPR protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by QDPR gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving QDPR gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving QDPR gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with QDPR gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with QDPR gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with QDPR gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with QDPR gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with QDPR gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for QDPR protein from the curated DrugBank Drug Targets dataset.