PCBD1 (AAH06324, 1 a.a. ~ 104 a.a) full-length recombinant protein with GST tag. The sequence is MAGKAHRLSAEERDQLLPNLRAVGWNELEGRDAIFKQFHFKDFNRAFGFMTRVALQAEKL DHHPEWFNVYNKVHITLSTHECAGLSERDINLASFIEQVAVSMT
This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants.
Pathway
Metabolism; Phenylalanine and tyrosine catabolism;
Citations
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