pcbd-1 is orthologous to the human gene PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE (PCBD or TCF1; OMIM:126090), which when mutated leads to hyperphenylalaninemia with primapterinuria.
Predicted to enable 4-alpha-hydroxytetrahydrobiopterin dehydratase activity. Predicted to be involved in tetrahydrobiopterin biosynthetic process. Expressed in head; hypodermis; neurons; and pharyngeal muscle cell. Human ortholog(s) of this gene implicated in BH4-deficient hyperphenylalaninemia D. Is an ortholog of human PCBD1 (pterin-4 alpha-carbinolamine dehydratase 1).
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC.