This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1.
应用类型
WB
免疫原
Recombinant fusion protein containing a sequence corresponding to amino acids 1-261 of human SPR (NP_003115.1).
