pterin-4-alpha carbinolamine dehydratase; 4-alpha-hydroxy-tetrahydrobiopterin dehydratase; phenylalanine hydroxylase-stimulating protein; PCD; dimerization cofactor of hepatocyte nuclear factor 1-alpha (PCBD1, PHS, DCOH)

Function

• role in tetrahydrobiopterin biosynthesis
• seems to both prevent the formation of 7-pterins & accelerate formation of quinonoid-BH2
• regulates dimerization of homeodomain protein HNF-1-alpha & enhances its transcriptional activity

(6R)-6-(L-erythro-1,2-dihydroxypropyl)-5,6,7,8-tetrahydro- 4a-hydroxypterin
          <-->
(6R)-6-(L-erythro-1,2-dihydroxypropyl)-7,8-dihydro-6H-pterin + H2O

Structure

• homotetramer or homodimer
• belongs to the pterin-4-alpha-carbinolamine dehydratase family

Compartment

cytoplasm. nucleus

Pathology

• defects in PCBD1 are a cause of hyperphenylalaninemia with primapterinuria

More general terms

• hydro-lyase, hydratase or dehydratase

Database

• UniProt: http://www.uniprot.org/uniprot/P61457.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5092
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5092
• OMIM: https://mirror.omim.org/entry/126090
• OMIM: https://mirror.omim.org/entry/264070