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XB-GENEPAGE-975698
Gene Symbol: pcbd1
Gene Name: pterin-4 alpha-carbinolamine dehydratase 1
Synonyms:
dcoh
,
LOC121396288
,
LOC496367
,
pcbd
,
pcd
,
phs
[+]
(
Gene Function: Pterin carbinolamine dehydratase PCBD/dimerization cofactor of HNF1 Protein Function
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Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription. Regulates th...[+]
Interactants:
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Diseases: Disease Ontology: BH4-deficient hyperphenylalaninemia D
MIM:
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D; HPABH4D
External Links:
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Expression | Development Stages Embryonic Tissues Adult Tissues | |||||||||||
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