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Quinoid dihydropteridine reductase
dihydropteridine reductase, DHPR
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] (from
Dulhunty et al., Australia. In Channels (austin), 2011
the electrostatic regulatory interaction between the SPRY2 F loop residues (that bind to imperatoxin A) and the ASI/basic residues of RyR1 does not influence bi-directional DHPR-RyR1 signaling during skeletal EC coupling
Hernandez-Rodriguez et al., Mexico. In Int J Dev Neurosci, 2010
Data show that intrauterine growth restriction increases serotonin biosynthesis in the brainstem, which is accompanied by an increase in dihydropteridine reductase activity that may be a compensatory mechanism to maintain sufficient tetrahydrobiopterin.