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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 NCBI)
Papers on dihydropteridine reductase
Junctophilin 1 and 2 proteins interact with the L-type Ca2+ channel dihydropyridine receptors (DHPRs) in skeletal muscle.
GeneRIF
Sorrentino et al., Siena, Italy. In J Biol Chem, 2012
JP1 and JP2 can facilitate the assembly of DHPR with other proteins of the excitation-contraction coupling machinery
The elusive role of the SPRY2 domain in RyR1.
GeneRIF
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
Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.
GeneRIF
Turck et al., M√ľnchen, Germany. In J Psychiatr Res, 2010
This protein has been found differentially expressed in thalami from patients with schizophrenia.
Dihydropteridine reductase activity in the brainstem of intrauterine growth-restricted rats.
GeneRIF
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.
Diminished expression of dihydropteridine reductase is a potent biomarker for hypertensive vessels.
GeneRIF
Kim et al., South Korea. In Proteomics, 2009
results suggest that the deficiency in tetrahydrobiopterin regeneration produced by diminished dihydrobiopterin reductase expression is involved in vascular disorders in hypertensive rats.
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