2024年12月25日 · QDPR (Quinoid Dihydropteridine Reductase) is a Protein Coding gene. Diseases associated with QDPR include Hyperphenylalaninemia, Bh4-Deficient, C and Hyperphenylalaninemia, Bh4-Deficient, A. Among its related pathways are Tyrosine catabolism and L-phenylalanine degradation I (aerobic).

QDPR (quinoid dihydropteridine reductase) is a human gene that produces the enzyme quinoid dihydropteridine reductase. This enzyme is part of the pathway that recycles a substance called tetrahydrobiopterin, also known as BH4. Tetrahydrobiopterin works with an enzyme called phenylalanine hydroxylase to process a substance called phenylalanine.

The QDPR gene provides instructions for making an enzyme called quinoid dihydropteridine reductase. This enzyme helps carry out one step in the chemical pathway that recycles a molecule called tetrahydrobiopterin (BH4).

2024年9月19日 · 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.

2024年4月11日 · 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.

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 ...

Ikeda et al. (1997) detected a homozygous trp36-to-arg (W36R) mutation of the QDPR gene in a Japanese patient with hyperphenylalaninemia due to DHPR deficiency (261630). The mutation abolished DHPR activity according to an in vitro expression study.

Gene ID: 5860, updated on 8-Feb-2025. 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 …

The QDPR gene provides instructions for making an enzyme called quinoid dihydropteridine reductase. This enzyme helps carry out one step in the chemical pathway that recycles a molecule called tetrahydrobiopterin (BH4). Tetrahydrobiopterin plays a critical role in processing several protein building blocks ( amino acids) in the body.

Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency. 这个基因编码酶二氢蝶呤还原酶，该酶催化NADH介导的醌类二氢蝶呤还原。 这个酶是蝶呤依赖性芳香族氨基酸羟化系统的基本组成部分。 这个基因中的突变导致QDPR缺乏，包括异常剪接、氨基酸替换、插入或过早终止。 二氢蝶呤还原酶缺乏表现为由于生物蝶呤产生不足而导致的非典型苯丙酮尿症，苯丙氨酸羟化酶的辅因子。 [由RefSeq，2008年7月提供]