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).[6]
Hansen LP, Crabtree GR (April 1993). "Regulation of the HNF-1 homeodomain proteins by DCoH".Current Opinion in Genetics & Development.3 (2):246–253.doi:10.1016/0959-437X(93)90030-S.PMID8504250.
Mendel DB, Khavari PA, Conley PB, Graves MK, Hansen LP, Admon A, Crabtree GR (December 1991). "Characterization of a cofactor that regulates dimerization of a mammalian homeodomain protein".Science.254 (5039):1762–1767.Bibcode:1991Sci...254.1762M.doi:10.1126/science.1763325.PMID1763325.
Thöny B, Neuheiser F, Blau N, Heizmann CW (May 1995). "Characterization of the human PCBD gene encoding the bifunctional protein pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor for the transcription factor HNF-1 alpha".Biochemical and Biophysical Research Communications.210 (3):966–973.doi:10.1006/bbrc.1995.1751.PMID7763270.
Thöny B, Heizmann CW, Mattei MG (January 1994). "Chromosomal location of two human genes encoding tetrahydrobiopterin-metabolizing enzymes: 6-pyruvoyl-tetrahydropterin synthase maps to 11q22.3-q23.3, and pterin-4 alpha-carbinolamine dehydratase maps to 10q22".Genomics.19 (2):365–368.doi:10.1006/geno.1994.1071.PMID8188266.
Thöny B, Neuheiser F, Kierat L, Rolland MO, Guibaud P, Schlüter T, et al. (August 1998). "Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia".Human Genetics.103 (2):162–167.doi:10.1007/s004390050800.PMID9760199.S2CID7949076.
Waters PJ, Scriver CR, Parniak MA (July 2001). "Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits: evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalaninemia".Molecular Genetics and Metabolism.73 (3):230–238.doi:10.1006/mgme.2001.3198.PMID11461190.
