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QDPR quinoid dihydropteridine reductase

Gene ID: 5860, updated on 28-Oct-2024
Gene type: protein coding
Also known as: DHPR; PKU2; HDHPR; SDR33C1

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Dihydropteridine reductase deficiency
MedGen: C0268465OMIM: 261630GeneReviews: Not available
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Genomic context

Location:
4p15.32
Sequence:
Chromosome: 4; NC_000004.12 (17486395..17512090, complement)
Total number of exons:
7

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