Not available outside of the UK & Ireland.
General description
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. (provided by RefSeq)
Immunogen
SPR (NP_003115, 164 a.a. ~ 260 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.SequenceFKGWALYCAGKAARDMLFQVLALEEPNVRVLNYAPGPLDTDMQQLARETSVDPDMRKGLQELKAKGKLVDCKVSAQKLLSLLEKDEFKSGAHVDFYD
Physical form
Solution in phosphate buffered saline, pH 7.4
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