RecName: Full=Pterin-4-alpha-carbinolamine dehydratase; Short=PHS; Alt - Protein

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Can the DCoHalpha isozyme compensate in patients with 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH deficiency? [Mol Genet Metab. 2006]
Can the DCoHalpha isozyme compensate in patients with 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH deficiency?
Hevel JM, Stewart JA, Gross KL, Ayling JE. Mol Genet Metab. 2006 May; 88(1):38-46. Epub 2006 Jan 19.
Characterization of expression of the gene for human pterin carbinolamine dehydratase/dimerization cofactor of HNF1. [DNA Cell Biol. 1999]
Characterization of expression of the gene for human pterin carbinolamine dehydratase/dimerization cofactor of HNF1.
Lei XD, Kaufman S. DNA Cell Biol. 1999 Mar; 18(3):243-52.
Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia. [Hum Genet. 1998]
Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia.
Thöny B, Neuheiser F, Kierat L, Rolland MO, Guibaud P, Schlüter T, Germann R, Heidenreich RA, Duran M, de Klerk JB, et al. Hum Genet. 1998 Aug; 103(2):162-7.

RefSeq genomic sequence
See the genomic reference sequence for the PCBD1 gene (NG_008646.1).
RefSeq protein isoforms
See 3 reference sequence protein isoforms for the PCBD1 gene.

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P61457 [Domain Mapping of Disease Mut...]
P61457
Domain Mapping of Disease Mutations
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Protein