Rat Anti-PCDH12 Recombinant Antibody (RM0509-19R9) (CBMAB-1658-CN)

Name: Rat Anti-PCDH12 Recombinant Antibody (RM0509-19R9)
SKU: CBMAB-1658-CN
Rating: 5 (1 reviews)

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Datasheet

SDS

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

Basic Information

Host Animal

Rat

Clone

RM0509-19R9

Application

Immunogen

Recombinant fragment corresponding to Mouse PCDH12 aa. 1-716.

Specificity

Mouse

Antibody Isotype

IgG2

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

Buffer

PBS

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

Protocadherin 12

Introduction

Cellular adhesion molecule that may play an important role in cell-cell interactions at interendothelial junctions. Promotes homotypic calcium-dependent aggregation and adhesion and clusters at intercellular junctions. It is unable to bind to catenins, weakly associates with the cytoskeleton.

Entrez Gene ID

53601

UniProt ID

O55134

Alternative Names

Pcdh14; VE-cad-2

Function

Cellular adhesion molecule that may play an important role in cell-cell interactions at interendothelial junctions (By similarity).
Acts as a regulator of cell migration, probably via increasing cell-cell adhesion (PubMed:21402705).
Promotes homotypic calcium-dependent aggregation and adhesion and clusters at intercellular junctions (By similarity).
Unable to bind to catenins, weakly associates with the cytoskeleton (By similarity).

Biological Process

Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion moleculesIEA:Ensembl
Cell adhesionManual Assertion Based On ExperimentIBA:GO_Central
Glycogen metabolic processIEA:Ensembl
Homophilic cell adhesion via plasma membrane adhesion moleculesIEA:Ensembl
Labyrinthine layer developmentIEA:Ensembl
Neuron recognitionManual Assertion Based On ExperimentTAS:ProtInc

Cellular Location

Protocadherin-12
Cell membrane
Cell junction
Protocadherin-12, secreted form
Secreted
The secreted form is produced following cleavage by ADAM10.

Involvement in disease

Diencephalic-mesencephalic junction dysplasia syndrome 1 (DMJDS1):
An autosomal recessive syndrome characterized by severe global developmental delay with profound intellectual disability, spasticity or dystonia, and congenital microcephaly. Brain imaging shows hypothalamic midbrain dysplasia, diencephalic-mesencephalic dysplasia, and intracerebral calcifications.

Topology

Extracellular: 25-718
Helical: 719-739
Cytoplasmic: 740-1184

PTM

Protocadherin-12
Cleaved by ADAM10 close to the transmembrane domain to release the Protocadherin-12, secreted form in the serum. Cleavage results in reduced cellular adhesion in a cell migration assay.

Rahşan, G. Ü. D. B. B., Gülen, G. P. Ö. Ş. K., & Haliloğlud, E. U. G. (2024). Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with GSX2 and PCDH12 Variants.

Rakotomamonjy, J., Rylaarsdam, L., Fares-Taie, L., McDermott, S., Davies, D., Yang, G., ... & Guemez-Gamboa, A. (2023). PCDH12 loss results in premature neuronal differentiation and impeded migration in a cortical organoid model. Cell reports, 42(8).

Rakotomamonjy, J., Rylaarsdam, L., Fares-Taie, L., McDermott, S., Davies, D., Yang, G., ... & Guemez-Gamboa, A. (2023). Impaired migration and premature differentiation underlie the neurological phenotype associated with PCDH12 loss of function. bioRxiv, 2023-01.

Fazeli, W., Bamborschke, D., Moawia, A., Bakhtiari, S., Tafakhori, A., Giersdorf, M., ... & Koy, A. (2022). The phenotypic spectrum of PCDH12 associated disorders-Five new cases and review of the literature. European Journal of Paediatric Neurology, 36, 7-13.

Aggarwal, S. (2022). Expanding spectrum of PCDH12 related phenotype begs exploration of multipronged pathomechanisms. European Journal of Paediatric Neurology, 36, A2-A3.

Accogli, A., El Kosseifi, C., Saint-Martin, C., Addour-Boudrahem, N., Rivière, J. B., Toffoli, D., ... & Srour, M. (2022). PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy. European Journal of Medical Genetics, 65(2), 104405.

Mattioli, F., Voisin, N., Preikšaitienė, E., Kozlovskaja, I., Kučinskas, V., & Reymond, A. (2021). Ophthalmic phenotypes associated with biallelic loss‐of‐function PCDH12 variants. American Journal of Medical Genetics Part A, 185(4), 1275-1281.

Reddy, C., Paria, P., Bhanudeep, S., Bhatia, V., & Saini, A. G. (2021). PCDH12-Related Movement Disorder. Journal of Pediatric Neurology, 19(06), 443-445.

Vineeth, V. S., Das Bhowmik, A., Balakrishnan, S., Dalal, A., & Aggarwal, S. (2019). Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. Journal of Human Genetics, 64(2), 183-189.

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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)
Proteogenomics
Other Protocols

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Isotype control

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

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