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MGP002549

Record overview

MGPD IDMGP002549
Gene ID5860
SpeciesHomo sapiens (Human)
Gene Namequinoid dihydropteridine reductase
Gene Symbol QDPR
SynonymsDHPR; PKU2; SDR33C1;
Alternate namesdihydropteridine reductase; 6,7-dihydropteridine reductase; HDHPR; short chain dehydrogenase/reductase family 33C, member 1;
Chromosome4
Map Location4p15.31
EC Number1.5.1.34
SummaryThis 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]
OrthologsView orthologs and multiple alignments for QDPR

Proteins

dihydropteridine reductase
Refseq ID:NP_000311
Protein GI:208973246
UniProt ID:P09417
mRNA ID:NM_000320
Length:244
RefSeq Status:
MAAAAAAGEARRVLVYGGRGALGSRCVQAFRARNWWVASVDVVENEEASASIIVKMTDSFTEQADQVTAEVGKLLGEEKVDAILCVAGGWAGGNAKSKSL
FKNCDLMWKQSIWTSTISSHLATKHLKEGGLLTLAGAKAALDGTPGMIGYGMAKGAVHQLCQSLAGKNSGMPPGAAAIAVLPVTLDTPMNRKSMPEADFS
SWTPLEFLVETFHDWITGKNRPSSGSLIQVVTTEGRTELTPAYF
 
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