The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Application notesWB: Use at a concentration of 1-5 µg/ml.
Not yet tested in other applications. Optimal dilutions/concentrations should be determined by the end user.
FunctionInvolved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription. Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity.
Involvement in diseaseDefects in PCBD1 are the cause of BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070]; also known as hyperphenylalaninemia with primapterinuria. HPABH4D is characterized by the excretion of 7-substituted pterins in the urine of affected patients.
Sequence similaritiesBelongs to the pterin-4-alpha-carbinolamine dehydratase family.