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Mouse Anti-PCBD1 Recombinant Antibody (CBYC-P196) (CBMAB-P0945-YC)

Provided herein is a Mouse monoclonal antibody against Human Pterin-4 Alpha-Carbinolamine Dehydratase 1. The antibody can be used for immunoassay techniques, such as ELISA, WB.
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Summary

Host Animal
Mouse
Specificity
Human
Clone
CBYC-P196
Antibody Isotype
IgG1
Application
ELISA, WB

Basic Information

Specificity
Human
Antibody Isotype
IgG1
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
PBS, pH 7.2, 0.09% sodium azide
Storage
Store at 4°C short term (1-2 weeks). Aliquot and store at-20°C long term. Avoid repeated freeze/thaw cycles.
Epitope
aa 1-105

Target

Full Name
pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
Introduction
PCBD1 is 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.
Entrez Gene ID
5092
UniProt ID
P61457
Alternative Names
Pterin-4 Alpha-Carbinolamine Dehydratase 1;-Pyruvoyl-Tetrahydropterin Synthase/Dimerization Cofactor Of Hepatocyte Nuclear Factor 1 Alpha (TCF1); Pterin-4 Alpha-Carbinolamine Dehydratase/Dimerization Cofactor Of Hepatocyte Nuclear Factor 1 Alpha; Phenylalanine Hydroxylase-Stimulating Protein; 4-Alpha-Hydroxy-Tetrahydropterin Dehydratase; Dimerizing Cofactor For HNF1; EC 4.2.1.96; DCOH; PCBD; PCD;
Function
Involved in tetrahydrobiopterin biosynthesis (By similarity).
Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription (By similarity).
Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity (By similarity).
Also acts as a coactivator for HNF1B-dependent transcription (PubMed:24204001).
Biological Process
Tetrahydrobiopterin biosynthetic processIEA:UniProtKB-KW
Cellular Location
Cytoplasm
Nucleus
Recruited to the nucleus through the interaction with HNF1B.
Involvement in disease
Hyperphenylalaninemia, BH4-deficient, D (HPABH4D):
An autosomal recessive disease characterized by primapterinuria, a variant form of hyperphenylalaninemia defined by increased excretion of 7-substituted pterins in the urine. Patients with primapterinuria show an increased ratio of neopterin to biopterin in the urine, excretion of subnormal levels of biopterins, and normal levels of biogenic amines in cerebrospinal fluid. Neurologic signs are mild, present in the neonatal period only, and include hypotonia, delayed motor development and tremor.
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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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