• Source: PCBD1

Pterin-4-alpha-carbinolamine dehydratase is an enzyme that in humans is encoded by the PCBD1 gene.




Function


This gene encodes pterin-4 alpha-carbinolamine dehydratase, an enzyme involved in phenylalanine hydroxylation. The enzyme regulates the homodimerization of the transcription factor hepatocyte nuclear factor 1 (HNF1).




Clinical significance


Mutations of the PCBD1 gene cause pterin-4 alpha-carbinolamine dehydratase deficiency, one of the forms of tetrahydrobiopterin deficiency.




Interactions


PCBD1 has been shown to interact with DYRK1B and HNF1A.




References






Further reading

Kata Kunci Pencarian:

• PCBD1
• Magnesium deficiency
• List of genetic disorders
• List of human protein-coding genes 3
• Pterin-4 alpha-carbinolamine dehydratase deficiency
• Chromosome 10
• Tetrahydrobiopterin deficiency
• DYRK1B
• HNF1A