Mouse Anti-MN1 Recombinant Antibody (CBFYM-2434) (CBMAB-M2621-FY)

Name: Mouse Anti-MN1 Recombinant Antibody (CBFYM-2434)
SKU: CBMAB-M2621-FY
Rating: 5 (1 reviews)

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Datasheet

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Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

CBFYM-2434

Application

WB, IP, IF, ELISA

Specificity

Mouse, Rat, Human

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

Liquid

Storage

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

More Infomation

Target

Full Name

MN1 Proto-Oncogene, Transcriptional Regulator

Introduction

Meningioma 1 contains two sets of CAG repeats. It is disrupted by a balanced translocation in a meningioma, and its inactivation may contribute to meningioma 32 pathogenesis.

Entrez Gene ID

Human	4330
Mouse	433938
Rat	498194

UniProt ID

Human	Q10571
Mouse	D3YWE6
Rat	D4AAP6

Alternative Names

MN1 Proto-Oncogene, Transcriptional Regulator; Probable Tumor Suppressor Protein MN1; Meningioma (Disrupted In Balanced Translocation) 1; Meningioma (Translocation Balanced); Meningioma Chromosome Region 1; Transcriptional Activator MN1

Function

Transcriptional activator which specifically regulates expression of TBX22 in the posterior region of the developing palate. Required during later stages of palate development for growth and medial fusion of the palatal shelves. Promotes maturation and normal function of calvarial osteoblasts, including expression of the osteoclastogenic cytokine TNFSF11/RANKL. Necessary for normal development of the membranous bones of the skull (By similarity).

May play a role in tumor suppression (Probable).

Biological Process

Intramembranous ossification Source: Ensembl
Negative regulation of osteoblast proliferation Source: UniProtKB
Positive regulation of vitamin D receptor signaling pathway Source: UniProtKB
Regulation of cell cycle G1/S phase transition Source: UniProtKB
Regulation of transcription, DNA-templated Source: InterPro

Cellular Location

Nucleus

Involvement in disease

CEBALID syndrome (CEBALID):
An autosomal dominant developmental disorder characterized by global developmental delay, intellectual disability with severe expressive language delay, craniofacial dysmorphism, and structural brain abnormalities. Most patients have an atypical form of rhombencephalosynapsis, a distinctive brain malformation characterized by partial or complete loss of the cerebellar vermis with fusion of the cerebellar hemispheres. Other frequent features include perisylvian polymicrogyria, abnormal posterior clinoid processes, cerebellar hypoplasia or dysplasia, and persistent trigeminal artery.
A chromosomal aberration involving MN1 may be a cause of acute myeloid leukemia (AML). Translocation t(12;22)(p13;q11) with ETV6.
Defects in MN1 involved in the development of meningiomas, slowly growing benign tumors derived from the arachnoidal cap cells of the leptomeninges, the soft coverings of the brain and spinal cord. Meningiomas are believed to be the most common primary tumors of the central nervous system in man.

Palma, C., Patricia, P. M., Lezana, J. M., Cruz, J., Quesada, J. F., Vila, S., ... & Moreno-García, M. (2021). A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome. Journal of Pediatric Genetics.

Miyake, N., Takahashi, H., Nakamura, K., Isidor, B., Hiraki, Y., Koshimizu, E., ... & Matsumoto, N. (2020). Gain-of-function MN1 truncation variants cause a recognizable syndrome with craniofacial and brain abnormalities. The American Journal of Human Genetics, 106(1), 13-25.

Mak, C. C., Doherty, D., Lin, A. E., Vegas, N., Cho, M. T., Viot, G., ... & Gordon, C. T. (2020). MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain, 143(1), 55-68.

Chen, S., Dickson, B. C., Mohammed, S., Aldape, K., Swanson, D., Coulombe, J., ... & Woulfe, J. (2019). A dural-based spindle cell neoplasm characterized by a novel MN1-KMT2A fusion gene. Neuro-oncology, 21(8), 1082-1083.

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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

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Isotype control

For research use only. Not intended for any clinical use.

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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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