Description
Product Characteristics:
SPR, also known as sepiapterin reductase, is a homodimeric cytoplasmic protein that belongs to the sepiapterin reductase family. SPR functions as an NADH-dependent aldo-keto reductase and specifically catalyzes the reduction of pteridine derivatives. In addition, SPR plays an important role in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the final reduction step of the synthesis pathway. BH4 is an essential cofactor for the hydroxylation of the aromatic amino acids (tryptophan, tyrosine and phenylalanine) and is required for proper dopamine synthesis. Mutations in the gene encoding SPR can cause sepiapterin reductase deficiency, a monoamine neurotransmitter deficiency without hyperphenylalaninemia. Sepiapterin reductase deficiency interferes with BH4 synthesis, resulting in DOPA-responsive dystonia and a variety of other human diseases. In addition, SPR mRNA expression is increased in the brain of Parkinson?s Disease (PD) patients, suggesting that SPR may play a role in PD.
Subcellular location: Cytoplasm
Synonyms: SDR38C1, Sepiapterin reductase 7,8 dihydrobiopterin:NADP+ oxidoreductase, Sepiapterin reductase, Short chain dehydrogenase/reductase family 38C, member 1, SPR, SPRE_HUMAN.
Target Information: This gene belongs to a gene family of tachykinin receptors. These tachykinin receptors are characterized by interactions with G proteins and contain seven hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin substance P, also referred to as neurokinin 1. The encoded protein is also involved in the mediation of phosphatidylinositol metabolism of substance P. [provided by RefSeq, Sep 2008]