XB-FEAT-975698

pcbd1

This is the community wiki page for the gene pcbd1 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.

nomenclature

11/29/2023

Gene name was changed from "pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha" to "pterin-4 alpha-carbinolamine dehydratase 1" in accordance with the human gene ortholog, PCBD1 (NCBI ID:5092).

X. laevis L and S homeologs in genome v10.1 were identified as pcbd1.L (XB gene model: XBXL10_1g30667, NCBI ID: 496367) and pcbd1.S (XB gene model: XBXL10_1g32918, NCBI ID: 121396288), respectively. Accordingly, the previous symbol placeholders for these genes, LOC496367 and LOC121396288 were added as synonyms.

summary for human PCBD1 from NCBI

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. [provided by RefSeq, Jan 2014]