EC Number   |
General Information |
Reference  |
|---|
    4.2.1.96 | physiological function |
expression of phenylalanine hydroxylase, PhhA (whereby folX and folM are essential for its function), plus the recycling enzyme pterin 4a-carbinolamine dehydratase, PhhB, rescue tyrosine auxotrophy in Escherichia coli |
704330 |
| 4.2.1.96 | malfunction |
PCD deficiency causes in newborns a mild form of hyperphenylalaninaemia with persistent high urinary levels of primapterin. Affected patients appear completely normal, but have elevated phenylalanine levels at birth, which normalize after few months of life and remain normal or just above the normal range of phenylalanine with an unrestricted diet |
704967 |
| 4.2.1.96 | physiological function |
PCD is required for the regeneration of tetrahydrobiopterin after phenylalanine hydroxylation. PCD can dimerize with HNF-1a and work as a transcription factor |
704967 |
| 4.2.1.96 | metabolism |
the PCD activity of the homoteterameric enzyme is involved in the aromatic amino acid metabolism |
714176 |
| 4.2.1.96 | physiological function |
the bifunctional protein shows two disparate functions, i.e. dimerization cofactor of HNF-1, DCoH1, and pterin-4a-carbinolamine dehydratase, PCD, that are associated with a change in oligomeric state between dimer and tetramer, overview. The PCD activity of homotetramers aids in aromatic amino acidmetabolism |
714176 |
| 4.2.1.96 | physiological function |
pterin-4a-carbinolamine dehydratase regenerates the tetrahydropterin-dependent aromatic amino acid hydroxylase, AAH, tetrahydropterin cofactor from 4a-carbinolamine |
716517 |
| 4.2.1.96 | malfunction |
in mutant phenotype lemon, the expression of BmDhpr is activated in the brain and sexual glands while BmPcd is expressed in a wider special pattern when the de novo pathway of BH4 is missing |
742313 |
| 4.2.1.96 | metabolism |
pterin-4a-carbinolamine dehydratase (PCD, BmPcd) and dihydropteridine reductase (DHPR, BmDhpr) might normally act in the regeneration pathway of Bombyx mori |
742313 |
| 4.2.1.96 | physiological function |
the regeneration pathway (RPB) of tetrahydrobiopterin (BH4), an essential cofactor of aromatic amino acid hydroxylases and nitric oxide synthase playing a key role in many biological processes, in Bombyx mori. The enzyme is involved in the insect BH4 biosynthetic networks, overview |
742313 |
| 4.2.1.96 | malfunction |
a Mu transposon insertion in the Zea mays (maize) gene encoding a chloroplast dimerization co-factor of hepatocyte nuclear factor 1 (DCoH)/pterin-4a-carbinolamine dehydratases (PCD)-like protein is the causative mutation in a seedling-lethal, Rubisco-deficient mutant named Rubisco accumulation factor 2 (raf2-1). In raf2 mutants newly synthesized Rubisco large subunit accumulates in a high-molecular weight complex, the formation of which requires a specific chaperonin 60-kDa isoform. raf2 Mutant phenotype, overview |
748945 |
