6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
Biotype
protein coding gene
Automated Description
Enables 4-alpha-hydroxytetrahydrobiopterin dehydratase activity and transcription coactivator activity. Involved in L-phenylalanine metabolic process. Acts upstream of or within positive regulation of DNA-templated transcription. Predicted to be located in cytosol and nucleoplasm. Human ortholog(s) of this gene implicated in BH4-deficient hyperphenylalaninemia D. Orthologous to human PCBD1 (pterin-4 alpha-carbinolamine dehydratase 1).
RGD Description
Enables 4-alpha-hydroxytetrahydrobiopterin dehydratase activity and transcription coactivator activity. Involved in L-phenylalanine metabolic process. Acts upstream of or within positive regulation of DNA-templated transcription. Predicted to be located in cytosol and nucleoplasm. Human ortholog(s) of this gene implicated in BH4-deficient hyperphenylalaninemia D. Orthologous to human PCBD1 (pterin-4 alpha-carbinolamine dehydratase 1); INTERACTS WITH (+)-schisandrin B; 17beta-estradiol; 6-propyl-2-thiouracil.