catalog number :
MBS9422431
products type :
Recombinant Protein
products full name :
Recombinant Human Pterin-4-alpha-carbinolamine dehydratase
products short name :
[Pterin-4-alpha-carbinolamine dehydratase]
products name syn :
[4-alpha-hydroxy-tetrahydropterin dehydratase; Dimerization cofactor of hepatocyte nuclear factor 1-alpha; DCoH; Dimerization cofactor of HNF1; Phenylalanine hydroxylase-stimulating protein; Pterin carbinolamine dehydratase; PCD]
other names :
[pterin-4-alpha-carbinolamine dehydratase isoform 1; Pterin-4-alpha-carbinolamine dehydratase; pterin-4-alpha-carbinolamine dehydratase; pterin-4 alpha-carbinolamine dehydratase 1; 4-alpha-hydroxy-tetrahydropterin dehydratase; Dimerization cofactor of hepatocyte nuclear factor 1-alpha; DCoH; Dimerization cofactor of HNF1; Phenylalanine hydroxylase-stimulating protein; Pterin carbinolamine dehydratase; PCD]
products gene name :
[PHS]
other gene names :
[PCBD1; PCBD1; PCD; PHS; DCOH; PCBD; DCOH; PCBD; PHS; DCoH; Dimerization cofactor of HNF1; PCD]
sequence positions :
[Full Length, 2-104aa]
sequence :
KVHITLSTHECAGLSERDINLASFIEQVAVSMT
MAGKAHRLSAEERDQLLPNLRAVGWNELEGRDAIFKQFH
FKDFNRAFGFMTRVALQAEKLDHHPEWFNVYN
purity :
Greater than 90% as determined by SDS-PAGE.
form :
20mM Tris-HCl based buffer, pH8.0
storage stability :
Store at -20 degree C, for extended storage, conserve at -20 degree C or -80 degree C. Repeated freezing and thawing is not recommended. Store working aliquots at 4 degree C for up to one week.
other info2 :
Tag Info: His-tag. Target Name: PHS. Description: Recombinant protein
products description :
Involved in tetrahydrobiopterin biosynthesis. Ses to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription. Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity.
ncbi acc num :
NP_000272.1
ncbi gb acc num :
NM_000281.3
ncbi pathways :
Metabolism Pathway (477135); Metabolism Of Amino Acids And Derivatives Pathway (106169); Phenylalanine And Tyrosine Catabolism Pathway (106189)
ncbi 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]
uniprot summary :
PCBD1: Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription. Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity. Defects in PCBD1 are the cause of BH4-deficient hyperphenylalaninemia type D (HPABH4D); also known as hyperphenylalaninemia with primapterinuria. HPABH4D is characterized by the excretion of 7-substituted pterins in the urine of affected patients. Belongs to the pterin-4-alpha-carbinolamine dehydratase family. Protein type: EC 4.2.1.96; Lyase; Oxidoreductase; Transcription, coactivator/corepressor. Chromosomal Location of Human Ortholog: 10q22.1. Cellular Component: cytosol; nucleoplasm; nucleus. Molecular Function: 4-alpha-hydroxytetrahydrobiopterin dehydratase activity; identical protein binding; protein binding. Biological Process: L-phenylalanine catabolic process. Disease: Hyperphenylalaninemia, Bh4-deficient, D