Recombinant Human PCBD1 protein (ab100942)
Key features and details
- Expression system: Escherichia coli
- Purity: > 95% SDS-PAGE
- Tags: His tag N-Terminus
- Suitable for: MS, SDS-PAGE
Description
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Product name
Recombinant Human PCBD1 protein -
Purity
> 95 % SDS-PAGE.
ab100942 was purified using conventional chromatography techniques. -
Expression system
Escherichia coli -
Accession
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Protein length
Full length protein -
Animal free
No -
Nature
Recombinant -
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Species
Human -
Sequence
MGSSHHHHHH SSGLVPRGSH MAGKAHRLSA EERDQLLPNL RAVGWNELEG RDAIFKQFHF KDFNRAFGFM TRVALQAEKL DHHPEWFNVY NKVHITLSTH ECAGLSERDI NLASFIEQVA VSMT -
Predicted molecular weight
14 kDa including tags -
Amino acids
1 to 104 -
Tags
His tag N-Terminus
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Associated products
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Related Products
Specifications
Our Abpromise guarantee covers the use of ab100942 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
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Applications
Mass Spectrometry
SDS-PAGE
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Mass spectrometry
MALDI-TOF -
Form
Liquid -
Concentration information loading...
Preparation and Storage
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Stability and Storage
Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
pH: 8.00
Constituents: 0.0154% DTT, 0.316% Tris HCl, 10% Glycerol (glycerin, glycerine)
General Info
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Alternative names
- 4 alpha hydroxy tetrahydropterin dehydratase
- 4-alpha-hydroxy-tetrahydropterin dehydratase
- 6 pyruvoyl tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
see all -
Function
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. -
Involvement in disease
Defects in PCBD1 are the cause of BH4-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070]; also known as hyperphenylalaninemia with primapterinuria. HPABH4D is characterized by the excretion of 7-substituted pterins in the urine of affected patients. -
Sequence similarities
Belongs to the pterin-4-alpha-carbinolamine dehydratase family. -
Cellular localization
Cytoplasm. Nucleus. Cytoplasmic and/or nuclear. - Information by UniProt
Protocols
To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.
Datasheets and documents
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SDS download
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Datasheet download
References (0)
ab100942 has not yet been referenced specifically in any publications.