PCBD1 cDNA
PCBD1 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.
Product Specifications
Product Name Alternative
DCOH, PCBD, PCD, PHS
Chromosomal Location
10q22
Antigen Species
Human
Vector Type
PATGen (puc19-derived cloning vector)
Sequence
Additionnal Information
Storage Conditions
Store the plasmid at -20C.
Formulation
Lyophilized
Scientific Category
Metabolism
Omim
126090
NCBI Accession Number
NP_000272.1
Species
Human
Preparation
RNA Reference
NM_000281.3
DNA Size
315bp
Vector Description
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