PCBD1 Human
Description
PCBD1 is fused to a 20 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
Product Specs
NKVHITLSTH ECAGLSERDI NLASFIEQVA VSMT.
Product Science Overview
Pterin-4-alpha-carbinolamine dehydratase (PCD) is an enzyme encoded by the PCBD1 gene in humans . This enzyme plays a crucial role in the recycling of tetrahydrobiopterin (BH4), a cofactor essential for the hydroxylation of aromatic amino acids . BH4 is involved in the synthesis of neurotransmitters such as serotonin, dopamine, and norepinephrine .
PCD catalyzes the dehydration of pterin-4-alpha-carbinolamine, a reaction intermediate in the BH4 recycling pathway . This reaction produces quinonoid dihydrobiopterin (q-BH2), which is subsequently reduced back to BH4 by dihydropteridine reductase . The enzyme also regulates the homodimerization of the transcription factor hepatocyte nuclear factor 1 (HNF1), enhancing its transcriptional activity .
The recombinant form of PCD can be prepared using Escherichia coli expression systems . The gene encoding PCD is cloned into an expression vector, which is then introduced into E. coli cells. The cells are cultured, and the enzyme is expressed and subsequently purified using affinity chromatography techniques .
PCD mediates the first of two reactions in the recycling of tetrahydropterins, the cofactors of aromatic amino hydroxylases (AAHs) . The enzyme catalyzes the dehydration of pterin-4-alpha-carbinolamine, forming q-BH2, which is then reduced to BH4 by q-dihydropterin reductase . This process is crucial for maintaining the levels of BH4 required for neurotransmitter synthesis .
PCD is involved in the regulation of several metabolic pathways. It prevents the formation of 7-pterins and accelerates the formation of q-BH2 . Additionally, PCD acts as a coactivator for HNF1A-dependent transcription, regulating the dimerization of homeodomain protein HNF1A and enhancing its transcriptional activity .
Mutations in the PCBD1 gene can lead to pterin-4-alpha-carbinolamine dehydratase deficiency (PCDD), a form of tetrahydrobiopterin deficiency . This condition is associated with hyperphenylalaninemia and can result in transient neurological deficits in infancy . Treatment involves a low-phenylalanine diet and sapropterin supplementation to normalize phenylalanine levels .
