Mouse Anti-AMER1 Recombinant Antibody (CBWJW-235) (CBMAB-A0001-WJ)

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Datasheet

Summary

Host Animal

Mouse

Specificity

Human

Clone

CBWJW-235

Antibody Isotype

IgG2b

Application

WB, ICC

Basic Information

Immunogen

E. coli-derived recombinant human WTX, Met421-Leu573.

Host Species

Mouse

Specificity

Human

Antibody Isotype

IgG2b

Clonality

Monoclonal

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Application	Note
WB	1 µg/ml
IF(ICC)	8-25 µg/ml

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

Format

Lyophilized

Buffer

PBS, Trehalose

Preservative

None

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name

APC Membrane Recruitment Protein 1

Introduction

AMER1 is a protein-coding gene encodes the protein which upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Diseases associated with AMER1 include Osteopathia Striata With Cranial Sclerosis and Ovarian Carcinosarcoma. An important paralog of this gene is AMER2.

Entrez Gene ID

139285

UniProt ID

Q5JTC6

Alternative Names

WTX; OSCS; FAM123B

Function

Regulator of the canonical Wnt signaling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signaling pathway, such as components of the beta-catenin destruction complex. Acts both as a positive and negative regulator of the Wnt signaling pathway, depending on the context: acts as a positive regulator by promoting LRP6 phosphorylation. Also acts as a negative regulator by acting as a scaffold protein for the beta-catenin destruction complex and promoting stabilization of Axin at the cell membrane. Promotes CTNNB1 ubiquitination and degradation. Involved in kidney development.

Biological Process

Adipose tissue development Source: Ensembl
Beta-catenin destruction complex assembly Source: Reactome
Beta-catenin destruction complex disassembly Source: Reactome
Bone development Source: Ensembl
Mesenchymal cell differentiation involved in kidney development Source: Ensembl
Negative regulation of canonical Wnt signaling pathway Source: UniProtKB
Positive regulation of canonical Wnt signaling pathway Source: UniProtKB
Positive regulation of cellular protein catabolic process Source: ParkinsonsUK-UCL
Positive regulation of protein ubiquitination Source: ParkinsonsUK-UCL
Regulation of canonical Wnt signaling pathway Source: UniProtKB
Wnt signaling pathway Source: Reactome

Cellular Location

Cytoplasm; Cell membrane; Nucleus. Shuttles between nucleus and cytoplasm. Detected in nuclear paraspeckles that are found close to splicing speckles. Translocates to the cell membrane following binding to PtdIns(4,5)P2.

Involvement in disease

Osteopathia striata with cranial sclerosis (OSCS): An X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, facial palsy, conductive hearing loss, mild learning disabilities, sclerosis of the long bones and skull. Longitudinal striations are visible on radiographs of the long bones, pelvis, and scapulae (osteopathia striata). In males this entity is usually associated with fetal or neonatal lethality. Occasional surviving males have, in addition to hyperostosis, cardiac, intestinal, and genitourinary malformations.

More Infomation

References

García-Aznar, J. M., Ramírez, N., De Uña, D., Santiago, E., & Monserrat, L. (2021). Whole Exome Sequencing Provides the Correct Diagnosis in a Case of Osteopathia Striata with Cranial Sclerosis: Case Report of a Novel Frameshift Mutation in AMER1. Journal of Pediatric Genetics, 10(02), 139-146.

Liu, Y., Chen, H., Dong, P., Xie, G., Zhou, Y., Ma, Y., ... & Shen, L. (2020). KIF23 activated Wnt/β-catenin signaling pathway through direct interaction with Amer1 in gastric cancer. Aging (Albany NY), 12(9), 8372.

Mi, J., Parthasarathy, P., Halliday, B. J., Morgan, T., Dean, J., Nowaczyk, M. J., ... & Wade, E. M. (2020). Deletion of exon 1 in AMER1 in osteopathia striata with cranial sclerosis. Genes, 11(12), 1439.

Boutet, A., Comai, G., Charlet, A., Jian Motamedi, F., Dhib, H., Bandiera, R., & Schedl, A. (2017). A knock‐in mouse line conditionally expressing the tumor suppressor WTX/AMER1. genesis, 55(11), e23074.

Costantini, A., Kekäläinen, P., Mäkitie, R. E., & Mäkitie, O. (2017). High bone mass due to novel LRP5 and AMER1 mutations. European journal of medical genetics, 60(12), 675-679.

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Protocols

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)
Proteogenomics
Other Protocols

Associated Products

Related Products

Rabbit Anti-AMER1 (N-term) Recombinant Antibody (CBXF-2276)

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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