PCBD1 : pterin-4 alpha-carbinolamine dehydratase 1
Description
The PCBD1 (pterin-4 alpha-carbinolamine dehydratase 1) is a protein-coding gene located on chromosome 10.
The PCBD1 gene provides instructions for making the enzyme pterin-4 alpha-carbinolamine dehydratase. This enzyme helps carry out a step in the recycling pathway for tetrahydrobiopterin (BH4). Tetrahydrobiopterin is crucial for processing amino acids in the body, working with phenylalanine hydroxylase to convert phenylalanine into tyrosine. It is also involved in the production of neurotransmitters. As a cofactor, tetrahydrobiopterin is altered during chemical reactions and needs to be recycled to a usable form. Pterin-4 alpha-carbinolamine dehydratase is one of two enzymes that help recycle tetrahydrobiopterin in the body.
PCBD1 plays a role in tetrahydrobiopterin biosynthesis, likely by preventing the formation of 7-pterins and accelerating the formation of quinonoid-BH2. It acts as a coactivator for both HNF1A and HNF1B-dependent transcription, regulating the dimerization of HNF1A and enhancing its transcriptional activity. This interaction with HNF1B increases its transactivation activity.
PCBD1 is also known as DCOH, PCBD, PCD, PHS.
Associated Diseases
- Pterin-4 alpha-carbinolamine dehydratase deficiency
- Hyperphenylalaninemia, BH4-deficient, D
- Tetrahydrobiopterin deficiency
