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Human gene
QDPR (quinoid dihydropteridine reductase) is a human gene that produces the enzyme quinoid dihydropteridine reductase. This enzyme is part of the pathway
QDPR
Genetic metabolic disorder
tetrahydrobiopterin deficiency, and occurs in patients with mutations of the QDPR gene. The disease presents with such symptoms as elevated levels of phenylalanine
Dihydropteridine reductase deficiency
Dihydropteridine_reductase_deficiency
Class of enzymes
in folate biosynthesis. In the human genome, the enzyme is encoded by the QDPR gene. This enzyme belongs to the family of oxidoreductases, specifically
6,7-dihydropteridine reductase
6,7-dihydropteridine_reductase
HGNC:9748; P10082 13230 PZP HGNC:9750; P20742 13231 QARS1 HGNC:9751; P47897 13232 QDPR HGNC:9752; P09417 13233 QKI HGNC:21100; Q96PU8 13234 QNG1 HGNC:28144; Q5T6V5
List of human protein-coding genes 6
List_of_human_protein-coding_genes_6
disease HEXA (15) recessive Tetrahydrobiopterin deficiency GCH1, PCBD1, PTS, QDPR, MTHFR, DHFR recessive Thanatophoric dysplasia FGFR3 dominant 1:60,000 Thickened
List_of_genetic_disorders
Medical condition
of the disorder.[citation needed] Mutations in the GCH1, PCBD1, PTS and QDPR genes directly cause BH4 deficiency. Additionally, mutations of the MTHFR
Tetrahydrobiopterin deficiency
Tetrahydrobiopterin_deficiency
Protein family
HSD17B3; HSD17B4; HSD17B6; HSD17B7; HSD17B7P2; HSD17B8; HSDL1; HSDL2; PECR; QDPR; RDH10; RDH11; RDH12; RDH13; RDH14; RDH16; RDH5; RDH8; RDHE2; RDHS; SCDR10;
Short-chain_dehydrogenase
Human chromosome
ef-hand domain 2 PSAPL1: encoding protein Prosaposin-like 1 (gene/pseudogene) QDPR: quinoid dihydropteridine reductase RBM47: RNA binding motif protein 47 RG9MTD2:
Chromosome_4
BH4-deficient, A; 261640; PTS Hyperphenylalaninemia, BH4-deficient, C; 261630; QDPR Hyperphenylalaninemia, BH4-deficient, D; 264070; PCBD Hyperpigmentation,
List_of_OMIM_disorder_codes
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