QDPR (quinoid dihydropteridine reductase) is a human gene that produces the enzyme quinoid dihydropteridine reductase. This enzyme is part of the pathway...
10 KB (1,239 words) - 02:22, 15 August 2023
disease HEXA (15) recessive Tetrahydrobiopterin deficiency GCH1, PCBD1, PTS, QDPR, MTHFR, DHFR recessive Thanatophoric dysplasia FGFR3 dominant 1:60,000 Thickened...
42 KB (969 words) - 16:02, 3 April 2024
tetrahydrobiopterin deficiency, and occurs in patients with mutations of the QDPR gene. The disease presents with such symptoms as elevated levels of phenylalanine...
4 KB (466 words) - 14:30, 3 December 2023
of the disorder.[citation needed] Mutations in the GCH1, PCBD1, PTS and QDPR genes directly cause BH4 deficiency. Additionally, mutations of the MTHFR...
10 KB (1,027 words) - 03:56, 25 April 2024
in folate biosynthesis. In the human genome, the enzyme is encoded by the QDPR gene. This enzyme belongs to the family of oxidoreductases, specifically...
5 KB (528 words) - 23:42, 21 June 2024
ef-hand domain 2 PSAPL1: encoding protein Prosaposin-like 1 (gene/pseudogene) QDPR: quinoid dihydropteridine reductase RBM47: RNA binding motif protein 47 RG9MTD2:...
31 KB (1,914 words) - 13:53, 6 June 2024
HGNC:9748 P10082 13227 PZP HGNC:9750 P20742 13228 QARS1 HGNC:9751 P47897 13229 QDPR HGNC:9752 P09417 13230 QKI HGNC:21100 Q96PU8 13231 QNG1 HGNC:28144 Q5T6V5...
282 KB (17 words) - 07:55, 20 June 2024
HSD17B3; HSD17B4; HSD17B6; HSD17B7; HSD17B7P2; HSD17B8; HSDL1; HSDL2; PECR; QDPR; RDH10; RDH11; RDH12; RDH13; RDH14; RDH16; RDH5; RDH8; RDHE2; RDHS; SCDR10;...
5 KB (486 words) - 04:29, 8 November 2023
BH4-deficient, A; 261640; PTS Hyperphenylalaninemia, BH4-deficient, C; 261630; QDPR Hyperphenylalaninemia, BH4-deficient, D; 264070; PCBD Hyperpigmentation,...
234 KB (18,877 words) - 15:43, 9 May 2024