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PCBD1

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

PCBD1
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Pterin-4-alpha-carbinolamine dehydratase is an enzyme that in humans is encoded by the PCBD1 gene.[5][6]

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Function

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]

Clinical significance

Mutations of the PCBD1 gene cause pterin-4 alpha-carbinolamine dehydratase deficiency, one of the forms of tetrahydrobiopterin deficiency.[7]

Interactions

PCBD1 has been shown to interact with DYRK1B[8] and HNF1A.[9][10]

References

Further reading

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