PCBD1 Summary

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]

PCBD1 Details

Gene Symbol : PCBD1

Gene Name : Pterin-4 alpha-carbinolamine dehydratase 1

Chromosome : CHR 10: 708,887,85-708,822,79

Locus : 10q22.1

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UVRAG Summary

This gene complements the ultraviolet sensitivity of xeroderma pigmentosum group C cells and encodes a protein with a C2 domain. The protein activates the Beclin1-PI(3)KC3 complex, promoting autophagy and suppressing the proliferation and tumorigenicity of human colon cancer cells. Chromosomal aberrations involving this gene are associated with left-right axis malformation and mutations in this gene have been associated with colon cancer. [provided by RefSeq, Jul 2008]

UVRAG Details

Gene Symbol : UVRAG

Gene Name : UV radiation resistance associated

Chromosome : CHR 11: 758,148,51-761,442,37

Locus : 11q13.5

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