QDPR - quinoid dihydropteridine reductase Gene

Also Known as DHPR; PKU2; HDHPR; SDR33C1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5860

About QDPR

Cytogenetic location: 4p15.32 Genomic coordinates (GRCh38): 4:17,486,395-17,512,090 (from NCBI)

This gene has 9 transcripts (splice variants), 236 orthologues and is associated with 3 phenotypes. Broad expression in brain (RPKM 86.6), kidney (RPKM 64.2) and 24 other tissues.

Summary

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]

QDPR Products (2)

mRNA	Protein	Name
NM_000320.3	NP_000311.2	dihydropteridine reductase isoform 1
NM_001306140.2	NP_001293069.1	dihydropteridine reductase isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables 6,7-dihydropteridine reductase activity	IDA IDA: Inferred from direct assay	3033643	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

QDPR Protein Structure

adh_short

0
100
200
244 a.a.

Protein Preferred Names	Protein Names
dihydropteridine reductase	6,7-dihydropteridine reductase

Recombinant QDPR Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71092	QDPR Protein, Human (HEK293, His)	P09417 (A2-F244)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Hyperphenylalaninemia, Bh4-Deficient, C	Dihydropteridine Reductase Deficiency Dhpr Deficiency Quinoid Dihydropteridine Reductase Deficiency Qdpr Deficiency HPABH4C Hyperphenylalaninemia Due To Dihydropteridine Reductase Deficiency Pku Type 2 Phenylketonuria Type 2 Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Dhpr Deficiency Bh4-Deficient Hyperphenylalaninemia C Tetrahydrobiopterin -Deficient Hyperphenylalaninemia Due To Dihydropteridine Reductase Deficiency Hyperphenylalaninemia, Bh-4-Deficient, C Phenylketonuria Type Ii Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Dhpr Deficiency Phenylketonuria Ii
Hyperphenylalaninemia, Bh4-Deficient, A	6-Pyruvoyl-Tetrahydropterin Synthase Deficiency Pts Deficiency HPABH4A Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency Ptsd Bh4-Deficient Hyperphenylalaninemia A Hyperphenylalaninemia Due To 6-Pyruvoyltetrahydropterin Synthase Deficiency Tetrahydobioperin-Deficient Hyperphenylalaninemia Due To Pts Deficiency Hyperphenylalanemia, Bh4-Deficient, A Hyperphenylalaninemia Due To 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency 6-Pyruvoyltetrahydropterin Synthase Deficiency Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Pts Deficiency Ptpsd Hyperphenylalaninemia, Bh4-Deficient, Type A
Phenylketonuria	Phenylalanine Hydroxylase Deficiency PKU Pah Deficiency Folling Disease Maternal Phenylketonuria Phenylketonurias Oligophrenia Phenylpyruvica Hyperphenylalaninemia, Non-Pku Mild Folling'S Disease Phenylalaninemia Mild Phenylketonuria Mild Pku Variant Pku Variant Phenylketonuria Mpku Deficiency Disease, Phenylalanine Hydroxylase Phenylketonuria, Maternal Phenylalanine Hydroxylase Deficiency Disease Hyperphenylalaninemic Embryopathy Maternal Pku Maternal Hyperphenylalaninemia Phenylketonuric Embryopathy Hyperphenylalaninemia HPA Non-Phenylketonuria Hyperphenylalaninemia NON-PKU HPA Phenylketonuria Maternal Classical Phenylketonuria Hyperphenylalaninaemia Pku - [Phenylketonuria]
Hyperphenylalaninemia	Hyperphenylalaninaemia
Hyperphenylalaninemia, Bh4-Deficient, B	Gtp Cyclohydrolase I Deficiency HPABH4B Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase I Deficiency Bh4-Deficient Hyperphenylalaninemia B Gtp Cyclohydrolase 1 Deficiency Tetrahydrobiopterin-Deficient Hyperphenylalaninemia B Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase 1 Deficiency Gtpch Deficiency Hyperphenylalaninemia Due To Gtp Cyclohydrolase Deficiency Atypical Severe Phenylketonuria Due To Gtp Cyclohydrolase I Deficiency Gch1 Deficiency Guanosine Triphosphate Cyclohydrolase I Deficiency Hyperphenylalaninemia With Neopterin Deficiency
Classic Phenylketonuria	Classical Phenylketonuria Classic Pku Phenylketonuria Classical Phenylpyruvic Oligophrenia Oligophrenia Phenylpyruvica Imbecilitus Phenylpyruvica Typical Phenylketonuria Phenylpyruvic Aciduria Pah - [Phenylalanine Hydroxylase] Deficiency Hyperphenylalaninaemia Type I Typical Pku - [Phenylketonuria] Folling Disease
Malignant Hyperthermia	Anesthesia Related Hyperthermia Malignant Hyperpyrexia Due To Anesthesia Hyperpyrexia, Malignant Hyperthermia, Malignant Malignant Hyperpyrexia Mhs Malignant Fever
Hypokalemic Periodic Paralysis, Type 2	HOKPP2 Periodic Paralysis Hypokalemic 2 Paralysis, Hypokalemic, Periodic, Type 2
Maple Syrup Urine Disease	MSUD Bckd Deficiency Branched-Chain Ketoaciduria Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency Keto Acid Decarboxylase Deficiency Maple Syrup Urine Disease, Type Ii Branched Chain Ketoaciduria Classic Maple Syrup Urine Disease Intermittent Maple Syrup Urine Disease Maple Syrup Urine Disease, Type Ia Ketoacidaemia Bckdh Deficiency Branched-Chain 2-Ketoacid Dehydrogenase Deficiency Thiamine-Responsive Maple Syrup Urine Disease Intermediate Maple Syrup Urine Disease Maple Syrup Urine Disease Type 1a Maple Syrup Urine Disease Type 1b Maple Syrup Urine Disease Type 2 Maple Syrup Urine Disease, Type Ib Dihydrolipoamide Dehydrogenase Deficiency Branched-Chain Ketoacid Dehydrogenase Deficiency Maple Syrup Disease Ketoacidemia Classic Bckd Deficiency Classic Msud Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Classic Branched-Chain Ketoaciduria Thiamine-Responsive Bckd Deficiency Thiamine-Responsive Msud Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Intermittent Bckd Deficiency Intermittent Msud Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Maple Syrup Urine Disease 1a MSUD1A Maple Syrup Urine Disease Type Ia Msud Type Ia Maple Syrup Urine Disease 1b MSUD1B Maple Syrup Urine Disease Type Ib Msud Type Ib Maple Syrup Urine Disease 2 MSUD2 Maple Syrup Urine Disease Type Ii Msud Type Ii Nadh Cytochrome B5 Reductase Deficiency Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency Ketonemia Maple Syrup Urine Disease, Type 1b Ketoacid Decarboxylase Deficiency Oxoacid Decarboxylase Deficiency Branched Chain Ketoacid Dehydrogenase Deficiency Msud - [Maple-Syrup-Urine Disease] Ketoaminoacidaemia Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency] Maple-Syrup-Urine Disorder Maple-Syrup-Urine Syndrome
Hypokalemic Periodic Paralysis, Type 1	Hypokalemic Periodic Paralysis Hokpp Hypopp Westphall Disease HOKPP1 Familial Hypokalemic Periodic Paralysis Familial Periodic Paralysis Westphal Disease Hypokalemic Periodic Paralysis Type 1 Hypokalemic Familial Periodic Paralysis Periodic Hypokalemic Paralysis Periodic Paralysis I Hypokpp Primary Hypokalemic Periodic Paralysis Periodic Paralysis Hypokalemic 1 Paralysis, Hypokalemic, Periodic Paralysis, Hypokalemic, Periodic, Type 1
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Sepiapterin Reductase Deficiency Spr Deficiency Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency Srd Drd Due To Srd Dopa-Responsive Hypersomnia Dyt-Spr Dyt/Park-Spr Sr-Deficient Drd Autosomal Recessive Sepiapterin Reductase-Deficient Drd Spr DRDSPRD Motor And Cognitive Disorder Due To Sepiapterin Reductase Deficiency Psychomotor Disorders
Aromatic L-Amino Acid Decarboxylase Deficiency	Aadc Deficiency Dopa Decarboxylase Deficiency Ddc Deficiency Aromatic Amino Acid Decarboxylase Deficiency Deficiency Of Aromatic-L-Amino-Acid Decarboxylase AADCD Aromatic-L-Amino-Acid Decarboxylase Deficiency Aromatic L-Amino-Acid Decarboxylase Deficiency
Tyrosinemia	Hypertyrosinemia Tyrosinemias Hereditary Tyrosinemia Hypertyrosinaemia Tyrosinaemia Hereditary Hypertyrosinemia
King-Denborough Syndrome	King Denborough Syndrome King Syndrome Kousseff Nichols Syndrome KDS Noonan Like Contracture Myopathy Hyperpyrexia Anesthetic-Induced Malignant Hyperpyrexia In Children Koussef-Nichols Syndrome
Glutamate Formiminotransferase Deficiency	Formiminoglutamic Aciduria Formiminotransferase Deficiency FIGLU-URIA Arakawa Syndrome 1 Formiminoglutamic Acidemia Formiminotransferase Cyclodeaminase Deficiency Formiminotransferase Deficiency Syndrome Ftcd Deficiency Formiminoglutamicaciduria Figluria
Tyrosinemia, Type Iii	Tyrosinemia Type Iii 4-Hydroxyphenylpyruvate Dioxygenase Deficiency TYRSN3 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency Tyrosinemia Type 3 4-Alpha Hydroxyphenylpyruvate Dioxygenase Deficiency 4-Alpha Hydroxyphenylpyruvic Acid Oxidase Deficiency Tyrosinemia Due To 4-Hydroxyphenylpyruvate Dioxygenase Deficiency Tyrosinemia Due To 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency Tyrosinemia Due To Hpd Deficiency Tyrosinemia 3
Oculogyric Crisis
Histidinemia	Histidine Ammonia-Lyase Deficiency Hal Deficiency Histidase Deficiency His Deficiency Histidinuria Hyperhistidinemia HISTID Histidinuria Renal Tubular Defect
Histidine Metabolism Disease	Disturbances Of Histidine Metabolism Disorder Of Histidine Metabolism Disturbance Of Histidine Metabolism
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Pnpo Deficiency Pyridoxamine 5'-Phosphate Oxidase Deficiency Pnpo-Related Neonatal Epileptic Encephalopathy Pyridoxal Phosphate-Responsive Seizures Pyridoxal 5'-Phosphate-Dependent Epilepsy Pyridoxine-5'-Phosphate Oxidase Deficiency PNPOD Seizures, Pyridoxine-Resistant, Plp-Sensitive Pyridoxal Phosphate-Dependent Seizures Pyridoxamine 5'-Oxidase Deficiency Epileptic Encephalopathy, Neonatal, Pnpo-Related Pyridox Ine 5'-Phosphate Oxidase Deficiency Deficiency, Pyridoxamine 5'-Phosphate Oxidase
Central Core Disease Of Muscle	Central Core Disease Central Core Myopathy CCD Cco Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber Myopathy, Central Core Shy-Magee Syndrome Muscle Core Disease Muscular Central Core Disease Myopathy, Central Fibrillar Shy'S Disease Moderate Multiminicore Disease With Hand Involvement
Keratomalacia	Vitamin A Deficiency Night Blindness Retinol Deficiency Xerotic Keratitis VAD Vitamin A Hypovitaminosis A Bitot Spots Bitot Spots In The Young Child Conjunctival Xerosis With Bitot'S Spots Vitamin A Deficiency With Cornea Xerosis Vitamin A Deficiency With Cornea Ulceration Or Xerosis
Thiamine Metabolism Dysfunction Syndrome 2	Biotin-Responsive Basal Ganglia Disease Basal Ganglia Disease, Biotin-Responsive THMD2 Bbgd Btbgd Encephalopathy, Thiamine-Responsive Thiamine Metabolism Dysfunction Syndrome 2, Biotin- Or Thiamine-Responsive Type Thiamine-Responsive Encephalopathy
Multiminicore Disease	Multiminicore Myopathy Mmd Minicore Disease Minicore Myopathy Multi-Core Congenital Myopathy Multi-Core Disease Multi-Minicore Disease Multicore Disease Multicore Myopathy Minicore Myopathy With External Ophthalmoplegia
Glutathione Synthetase Deficiency	5-Oxoprolinuria Pyroglutamic Aciduria Pyroglutamicaciduria Glutathione Synthetase Deficiency With 5-Oxoprolinuria GSSD Oxoprolinase Deficiency 5-Oxoprolinemia Deficiency Of Glutathione Synthase Deficiency Of Glutathione Synthetase Pyroglutamic Acidemia GSS DEFICIENCY Gluthathione Synthetase Deficiency 5-Oxoprolinase Deficiency
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Cerebral Creatine Deficiency Syndrome 1	Creatine Transporter Deficiency Creatine Transporter Defect Slc6a8 Deficiency X-Linked Creatine Deficiency Syndrome CCDS1 Creatine Deficiency Syndrome, X-Linked X-Linked Creatine Deficiency Creatine Deficiency, X-Linked X-Linked Creatine Transporter Deficiency Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia Mental Retardation, X-Linked, With Creatine Transport Deficiency Intellectual Disability, X-Linked With Seizures, Short Stature And Midface Hypoplasia Intellectual Disability, X-Linked, With Creatine Transport Deficiency Slc6a8-Related Creatine Transporter Deficiency Deficiency, Cerebral Creatine, Syndrome, Type 1
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo VAMAS1 Slev1 Vtlg Systemic Lupus Erythematosus, Vitiligo-Related Vitiligo-Associated Multiple Autoimmune Disease 1 Systemic Lupus Erythematosus Vitiligo-Related
Folate Malabsorption, Hereditary	Hereditary Folate Malabsorption Congenital Defect Of Folate Absorption Congenital Folate Malabsorption Folic Acid Transport Defect HFM
Alkaptonuria	Homogentisic Acid Oxidase Deficiency Alcaptonuria AKU Deficiency Of Homogentisicase Homogentisate 1,2-Dioxygenase Deficiency Alkaptonuric Ochronosis Homogentisic Acidura Ochronosis, Hereditary Hereditary Ochronosis Ochronosis Homogentisicaciduria Deficiency Of Homogentisate Oxygenase
Argininemia	Hyperargininemia Arginase Deficiency Arg1 Deficiency Arginase-1 Deficiency Deficiency Of Canavanase Arginase Deficiency Disease ARGIN
Epilepsy, Pyridoxine-Dependent	Pyridoxine-Dependent Epilepsy PDE Pyridoxine Dependency With Seizures Vitamin B6-Dependent Seizures EPD Aasa Dehydrogenase Deficiency Antiquitin Deficiency Pyridoxine Dependency Glutamate Decarboxylase Deficiency Pyridoxine-Dependent Seizures Deficiency Of Glutamate Decarboxylase
Congenital Fiber-Type Disproportion	Congenital Fiber Type Disproportion Cftdm Congenital Myopathy With Fiber Type Disproportion Cftd Congenital Fiber-Type Disproportion Myopathy Fiber-Type Disproportion Myopathy, Congenital Myopathy, Congenital With Fiber-Type Disproportion
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Myopathy	Muscular Diseases Myopathies
Isolated Elevated Serum Creatine Phosphokinase Levels	Elevated Serum Cpk Idiopathic Hyperckemia Isolated Hyperckemia Elevated Serum Creatine Phosphokinase H-Ck Idiopathic Persistent Elevation Of Serum Creatine Kinase
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W320239	QDPR-IN-1		99.28%	Unkown
HY-RS11499	QDPR Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19941	Qdpr Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26443	Qdpr Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	QDPR	VGNC	VGNC:76635
Bos taurus	QDPR	VGNC	VGNC:33596
Felis catus	QDPR	VGNC	VGNC:69198
Rattus norvegicus	QDPR	RGD	RGD:619915
Mus musculus	QDPR	MGD	MGI:97836
Canis familiaris	QDPR	VGNC	VGNC:45231
Others	QDPR	NCBI