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... See more...

Aliases for QDPR Gene

Aliases for QDPR Gene

  • Quinoid Dihydropteridine Reductase 2 3 4 5
  • SDR33C1 2 3 4
  • DHPR 2 3 4
  • Short Chain Dehydrogenase/Reductase Family 33C Member 1 3 4
  • 6,7-Dihydropteridine Reductase 2 3
  • Dihydropteridine Reductase 3 4
  • EC 1.5.1.34 4 51
  • HDHPR 3 4
  • PKU2 2 3
  • Short Chain Dehydrogenase/Reductase Family 33C, Member 1 2
  • Testis Secretory Sperm-Binding Protein Li 236P 3
  • QDPR 5

External Ids for QDPR Gene

Previous GeneCards Identifiers for QDPR Gene

  • GC04M017302
  • GC04M017430
  • GC04M017176
  • GC04M017238
  • GC04M017164
  • GC04M017097
  • GC04M017488
  • GC04M016842

Summaries for QDPR Gene

Entrez Gene Summary for QDPR Gene

  • 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]

GeneCards Summary for QDPR Gene

QDPR (Quinoid Dihydropteridine Reductase) is a Protein Coding gene. Diseases associated with QDPR include Hyperphenylalaninemia, Bh4-Deficient, C and Phenylketonuria. Among its related pathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and electron transfer activity.

UniProtKB/Swiss-Prot Summary for QDPR Gene

  • The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases.

Gene Wiki entry for QDPR Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for QDPR Gene

Genomics for QDPR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for QDPR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J017510 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 645.7 +0.6 586 2.7 GATAD2A CTCF HNRNPL REST IKZF1 POLR2A LARP7 ZNF143 RBFOX2 ZNF24 QDPR RF00017-4273 lnc-CLRN2-1 LDB2
GH04J017513 Promoter/Enhancer 0.7 Ensembl dbSUPER 604.7 -1.3 -1267 0.6 SOX5 ZNF652 QDPR CLRN2 lnc-CLRN2-1
GH04J017517 Enhancer 0.6 Ensembl dbSUPER 45.8 -5.4 -5366 1.6 ZMYM3 GLIS1 KDM1A QDPR CLRN2 SNODB461 lnc-CLRN2-1 LAP3
GH04J017575 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 10.1 -66.4 -66396 5.3 SP1 HNRNPL CREB1 ATF7 REST TFE3 RFX1 NFKBIZ POLR2A BACH1 LAP3 lnc-FAM184B-7 MED28 ENSG00000249502 DCAF16 NCAPG QDPR LCORL RF00017-4274
GH04J017529 Enhancer 0.6 Ensembl 39.2 -17.4 -17367 0.4 REST JUND CTBP1 JUNB DPF2 BATF KLF1 FOS MTA1 GATA2 SNODB461 QDPR CLRN2 lnc-QDPR-4 lnc-CLRN2-1 LAP3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around QDPR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for QDPR

Top Transcription factor binding sites by QIAGEN in the QDPR gene promoter:
  • AML1a
  • c-Myb
  • CREB
  • deltaCREB
  • FOXD3
  • Ik-2
  • NF-1
  • NF-1/L
  • Pax-4a
  • RFX1

Genomic Locations for QDPR Gene

Genomic Locations for QDPR Gene
chr4:17,460,261-17,512,234
(GRCh38/hg38)
Size:
51,974 bases
Orientation:
Minus strand
chr4:17,461,884-17,513,857
(GRCh37/hg19)
Size:
51,974 bases
Orientation:
Minus strand

Genomic View for QDPR Gene

Genes around QDPR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
QDPR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for QDPR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for QDPR Gene

Proteins for QDPR Gene

  • Protein details for QDPR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P09417-DHPR_HUMAN
    Recommended name:
    Dihydropteridine reductase
    Protein Accession:
    P09417
    Secondary Accessions:
    • A8K158
    • B3KW71
    • Q53F52
    • Q9H3M5

    Protein attributes for QDPR Gene

    Size:
    244 amino acids
    Molecular mass:
    25790 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for QDPR Gene

    Alternative splice isoforms for QDPR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for QDPR Gene

Selected DME Specific Peptides for QDPR Gene

P09417:
  • WTSTISSHLATKHLKEGGLLTLAGA
  • LPVTLDTP
  • SGSLIQVVTT
  • KVDAILCVAGGWAGGNAKSKSLFKNCD
  • ADFSSWTPLEFLVETFHDWI
  • AVHQLCQSLAGK
  • AALDGTPGMIGYGMAK

Post-translational modifications for QDPR Gene

  • Ubiquitination at Lys138
  • Modification sites at PhosphoSitePlus

Domains & Families for QDPR Gene

Gene Families for QDPR Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for QDPR Gene

InterPro:
Blocks:
  • Short-chain dehydrogenase/reductase SDR
ProtoNet:

Suggested Antigen Peptide Sequences for QDPR Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ42391 fis, clone 3NB692002806, highly similar to Dihydropteridine reductase (EC 1.5.1.34) (B3KW71_HUMAN)
  • cDNA FLJ55000, highly similar to Dihydropteridine reductase (EC 1.5.1.34) (B7Z415_HUMAN)
  • Quinoid dihydropteridine reductase (DHPR_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P09417

UniProtKB/Swiss-Prot:

DHPR_HUMAN :
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with QDPR: view

Function for QDPR Gene

Molecular function for QDPR Gene

UniProtKB/Swiss-Prot Function:
The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5,6,7,8-tetrahydropteridine + NAD(+) = 6,7-dihydropteridine + H(+) + NADH; Xref=Rhea:RHEA:17869, ChEBI:CHEBI:15378, ChEBI:CHEBI:28889, ChEBI:CHEBI:30156, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.5.1.34;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5,6,7,8-tetrahydropteridine + NADP(+) = 6,7-dihydropteridine + H(+) + NADPH; Xref=Rhea:RHEA:17865, ChEBI:CHEBI:15378, ChEBI:CHEBI:28889, ChEBI:CHEBI:30156, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.5.1.34;.
GENATLAS Biochemistry:
quininoid dihydropteridine reductase,tetrahydrobiopterin (BH4) cycle,phenylalanine hydroxylation system

Enzyme Numbers (IUBMB) for QDPR Gene

Phenotypes From GWAS Catalog for QDPR Gene

Gene Ontology (GO) - Molecular Function for QDPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004155 6,7-dihydropteridine reductase activity TAS,IBA 21873635
GO:0009055 electron transfer activity TAS 3033643
GO:0016491 oxidoreductase activity IEA --
GO:0042802 identical protein binding IEA --
GO:0070402 NADPH binding IBA 21873635
genes like me logo Genes that share ontologies with QDPR: view
genes like me logo Genes that share phenotypes with QDPR: view

Human Phenotype Ontology for QDPR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for QDPR Gene

MGI Knock Outs for QDPR:

Animal Model Products

  • Taconic Biosciences Mouse Models for QDPR

CRISPR Products

miRNA for QDPR Gene

miRTarBase miRNAs that target QDPR

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for QDPR

No data available for Transcription Factor Targets and HOMER Transcription for QDPR Gene

Localization for QDPR Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for QDPR gene
Compartment Confidence
cytosol 5
extracellular 4
mitochondrion 3
plasma membrane 2
nucleus 2
endoplasmic reticulum 2
cytoskeleton 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for QDPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0043005 neuron projection IEA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with QDPR: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for QDPR Gene

Pathways & Interactions for QDPR Gene

genes like me logo Genes that share pathways with QDPR: view

Pathways by source for QDPR Gene

2 KEGG pathways for QDPR Gene
1 Qiagen pathway for QDPR Gene
  • Intracellular Calcium Signaling

Gene Ontology (GO) - Biological Process for QDPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development IEA --
GO:0006520 cellular amino acid metabolic process TAS 3033643
GO:0006559 L-phenylalanine catabolic process TAS --
GO:0006729 tetrahydrobiopterin biosynthetic process IBA 21873635
GO:0010044 response to aluminum ion IEA --
genes like me logo Genes that share ontologies with QDPR: view

No data available for SIGNOR curated interactions for QDPR Gene

Drugs & Compounds for QDPR Gene

(32) Drugs for QDPR Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Sapropterin Approved, Investigational Pharma 0
dihydrobiopterin Experimental Pharma 0
NADPH Experimental Pharma 0
2-(N-morpholino)ethanesulfonic acid Experimental Pharma Target 0

(23) Additional Compounds for QDPR Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dihydropteridine
  • 6,7-Dihydropteridine
4a-Carbinolamine tetrahydrobiopterin
  • 6,7-Dihydrobiopterin
  • Quinoid-dihydrobiopterin
  • (6R)-6-(L-erythro-1,2-Dihydroxypropyl)-7,8-dihydro-6H-pterin
  • 1,3,5-Benzenetriol
  • 1,3,5-Trihydroxybenzene
79647-29-3
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
L-erythro-tetrahydrobiopterin
  • (-)-(6R)-2-amino-6-((1R,2S)-1,2-Dihydroxypropyl)-5,6,7,8-tetrahydro-4(3H)-pteridinone
  • (6R)-L-erythro-Tetrahydrobiopterin
  • 2-amino-6-(1,2-Dihydroxypropyl)-5,6,7,8-tetrahydoro-4(1H)-pteridinone
  • 5,6,7,8-Tetrahydrobiopterin
  • 6R-5,6,7,8-Tetrahydrobiopterin
Tetrahydropteridine
  • 5,6,7,8-tetrahydro-Pteridine
  • 5,6,7,8-Tetrahydropteridine
  • H4-Biopterin
  • THP
10593-78-9
genes like me logo Genes that share compounds with QDPR: view

Transcripts for QDPR Gene

mRNA/cDNA for QDPR Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for QDPR

Alternative Splicing Database (ASD) splice patterns (SP) for QDPR Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c · 9d · 9e · 9f · 9g
SP1: - - - -
SP2: - - -
SP3: - - -
SP4: - - - - -
SP5: - - - - - -
SP6: - - - - - - - -
SP7: - - - - - - -
SP8: - - - - -
SP9: - - - - - - -
SP10: - - - - - - - - - -
SP11: -
SP12: -
SP13:

Relevant External Links for QDPR Gene

GeneLoc Exon Structure for
QDPR

Expression for QDPR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for QDPR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for QDPR Gene

This gene is overexpressed in Brain - Substantia nigra (x6.8), Brain - Spinal cord (cervical c-1) (x6.5), Brain - Putamen (basal ganglia) (x4.4), Brain - Hippocampus (x4.2), and Brain - Amygdala (x4.1).

Protein differential expression in normal tissues from HIPED for QDPR Gene

This gene is overexpressed in Frontal cortex (12.0), Liver, secretome (7.4), and Retina (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for QDPR Gene



Protein tissue co-expression partners for QDPR Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for QDPR

SOURCE GeneReport for Unigene cluster for QDPR Gene:

Hs.75438

Evidence on tissue expression from TISSUES for QDPR Gene

  • Nervous system(5)
  • Liver(4.5)
  • Skin(3.3)
  • Muscle(3)
  • Heart(2.8)
  • Kidney(2.6)
  • Pancreas(2.4)
  • Adrenal gland(2.3)
  • Blood(2.2)
  • Eye(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for QDPR Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • head
  • mouth
  • pharynx
  • salivary gland
  • skull
Thorax:
  • esophagus
Abdomen:
  • kidney
  • stomach
General:
  • skin
genes like me logo Genes that share expression patterns with QDPR: view

No data available for mRNA Expression by UniProt/SwissProt for QDPR Gene

Orthologs for QDPR Gene

This gene was present in the common ancestor of animals.

Orthologs for QDPR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia QDPR 30 31
  • 99.18 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia QDPR 31
  • 91 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia QDPR 30 31
  • 90.18 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia QDPR 31
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Qdpr 30 17 31
  • 88.61 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Qdpr 30
  • 87.62 (n)
Cow
(Bos Taurus)
Mammalia QDPR 30 31
  • 87.17 (n)
OneToOne
Chicken
(Gallus gallus)
Aves QDPR 30 31
  • 75.74 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia QDPR 31
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia qdpr 30
  • 68.08 (n)
Str.6689 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.16704 30
Zebrafish
(Danio rerio)
Actinopterygii qdpra 31
  • 70 (a)
OneToMany
qdprb1 30 31
  • 67.38 (n)
OneToMany
QDPR (7 of 7) 31
  • 58 (a)
OneToMany
qdprb2 31 31 31 31
  • 57 (a)
OneToMany
Dr.19525 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10724 30
Fruit Fly
(Drosophila melanogaster)
Insecta Dhpr 30 31 32
  • 61.35 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002534 30
  • 58.88 (n)
Worm
(Caenorhabditis elegans)
Secernentea T03F6.1 32
  • 51 (a)
qdpr-1 30 31
  • 50.87 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2743 31
  • 55 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.788 30
Species where no ortholog for QDPR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for QDPR Gene

ENSEMBL:
Gene Tree for QDPR (if available)
TreeFam:
Gene Tree for QDPR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for QDPR: view image

Paralogs for QDPR Gene

No data available for Paralogs for QDPR Gene

Variants for QDPR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for QDPR Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
348150 Uncertain Significance: BH4-Deficient Hyperphenylalaninemia 17,486,910(-) CA/TG NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
657153 Likely Pathogenic: Dihydropteridine reductase deficiency 17,490,747(-) T/C SPLICE_ACCEPTOR_VARIANT
659051 Uncertain Significance: Dihydropteridine reductase deficiency 17,492,287(-) G/C MISSENSE_VARIANT
741759 Likely Benign: not provided 17,492,258(-) G/A SYNONYMOUS_VARIANT
745493 Likely Benign: not provided 17,512,037(-) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for QDPR Gene

Structural Variations from Database of Genomic Variants (DGV) for QDPR Gene

Variant ID Type Subtype PubMed ID
nsv1003127 CNV gain 25217958
nsv593781 CNV gain 21841781

Variation tolerance for QDPR Gene

Residual Variation Intolerance Score: 28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.49; 10.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for QDPR Gene

Human Gene Mutation Database (HGMD)
QDPR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
QDPR

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for QDPR Gene

Disorders for QDPR Gene

MalaCards: The human disease database

(26) MalaCards diseases for QDPR Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search QDPR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DHPR_HUMAN
  • Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630]: Rare autosomal recessive disorder characterized by hyperphenylalaninemia and severe neurologic symptoms (malignant hyperphenylalaninemia) including axial hypotonia and truncal hypertonia, abnormal thermogenesis, and microcephaly. These signs are attributable to depletion of the neurotransmitters dopamine and serotonin, whose syntheses are controlled by tryptophan and tyrosine hydroxylases that use BH-4 as cofactor. Patients do not respond to phenylalanine-restricted diet. HPABH4C is lethal if untreated. {ECO:0000269 PubMed:10408783, ECO:0000269 PubMed:11153907, ECO:0000269 PubMed:2116088, ECO:0000269 PubMed:8326489, ECO:0000269 PubMed:9744478}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for QDPR Gene

hyperphenylalaninemia,malignant phenylketonuria with neurologic deterioration

Additional Disease Information for QDPR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with QDPR: view

Publications for QDPR Gene

  1. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. (PMID: 19491146) Clot F … French Dystonia Network (Brain : a journal of neurology 2009) 3 23 41
  2. Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE). (PMID: 11153907) Romstad A … Güttler F (Human genetics 2000) 3 4 23
  3. A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online. (PMID: 10408783) Smooker PM … Dianzani I (Human mutation 1999) 3 4 23
  4. Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. (PMID: 9744478) Dianzani I … Cotton RG (Human mutation 1998) 3 4 23
  5. Molecular basis of dihydropteridine reductase deficiency. (PMID: 7627180) Smooker PM … Cotton RG (Human mutation 1995) 3 4 23

Products for QDPR Gene

Sources for QDPR Gene