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

Name: Mouse Anti-PCBD1 Recombinant Antibody (CBYC-P196)
SKU: CBMAB-P0945-YC
Rating: 5 (1 reviews)

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Datasheet

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Basic Information

Host Animal

Mouse

Clone

CBYC-P196

Application

ELISA, WB

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

More Infomation

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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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme Linked Immunospot (ELISpot)
Proteogenomic
Other Protocols

Isotype control

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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