Mouse Anti-PCDH19 Recombinant Antibody (CBYC-P205) (CBMAB-P0969-YC)

Name: Mouse Anti-PCDH19 Recombinant Antibody (CBYC-P205)
SKU: CBMAB-P0969-YC
Rating: 5 (1 reviews)

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Datasheet

SDS

Request for COA

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

Basic Information

Host Animal

Mouse

Clone

CBYC-P205

Application

FC, CyTOF

Immunogen

HEK293 human embryonic kidney cell line transfected with human Protocadherin-19, Met1-Ser678

Specificity

Human

Antibody Isotype

IgG2b

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

Lyophilized from PBS with trehalose

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 19

Introduction

PCDH19 is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Mutations in this gene on human chromosome X are associated with sporadic infantile epileptic encephalopathy and to a female-restricted form of epilepsy (EFMR; also known as PCDH19RE).

Entrez Gene ID

57526

UniProt ID

Q8TAB3

Alternative Names

Protocadherin 19; Epilepsy, Female Restricted, With Mental Retardation (Juberg-Hellman Syndrome); Protocadherin-19; KIAA1313; EIEE9; EFMR;

Function

Potential calcium-dependent cell-adhesion protein.

Biological Process

Brain developmentIEA:InterPro
Cell adhesionManual Assertion Based On ExperimentIBA:GO_Central
Homophilic cell adhesion via plasma membrane adhesion moleculesIEA:InterPro

Cellular Location

Cell membrane

Involvement in disease

Developmental and epileptic encephalopathy 9 (DEE9):
A condition characterized by seizure with onset in infancy or early childhood, cognitive impairment, and delayed development of variable severity in some patients. Additional features include autistic signs and psychosis. The disorder is sex-limited, with the phenotype being restricted to females.

Topology

Extracellular: 22-678
Helical: 679-699
Cytoplasmic: 700-1148

Mincheva-Tasheva, S., Nieto Guil, A. F., Homan, C. C., Gecz, J., & Thomas, P. Q. (2021). Disrupted excitatory synaptic contacts and altered neuronal network activity underpins the neurological phenotype in PCDH19-clustering epilepsy (PCDH19-CE). Molecular Neurobiology, 58, 2005-2018.

Shibata, M., Ishii, A., Goto, A., & Hirose, S. (2021). Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy. Journal of human genetics, 66(6), 569-578.

Hoshina, N., Johnson-Venkatesh, E. M., Hoshina, M., & Umemori, H. (2021). Female-specific synaptic dysfunction and cognitive impairment in a mouse model of PCDH19 disorder. Science, 372(6539), eaaz3893.

Samanta, D. (2020). PCDH19-related epilepsy syndrome: a comprehensive clinical review. Pediatric neurology, 105, 3-9.

Gecz, J., & Thomas, P. Q. (2020). Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics. Current Opinion in Genetics & Development, 65, 169-175.

Kolc, K. L., Møller, R. S., Sadleir, L. G., Scheffer, I. E., Kumar, R., & Gecz, J. (2020). PCDH19 pathogenic variants in males: expanding the phenotypic spectrum. Cell Biology and Translational Medicine, Volume 10: Stem Cells in Tissue Regeneration, 177-187.

Rakotomamonjy, J., Sabetfakhri, N. P., McDermott, S. L., & Guemez‐Gamboa, A. (2020). Characterization of seizure susceptibility in Pcdh19 mice. Epilepsia, 61(10), 2313-2320.

Niazi, R., Fanning, E. A., Depienne, C., Sarmady, M., & Abou Tayoun, A. N. (2019). A mutation update for the PCDH19 gene causing early‐onset epilepsy in females with an unusual expression pattern. Human mutation, 40(3), 243-257.

Liu, A., Yang, X., Yang, X., Wu, Q., Zhang, J., Sun, D., ... & Zhang, Y. (2019). Mosaicism and incomplete penetrance of PCDH19 mutations. Journal of medical genetics, 56(2), 81-88.

Lim, J., Ryu, J., Kang, S., Noh, H. J., & Kim, C. H. (2019). Autism-like behaviors in male mice with a Pcdh19 deletion. Molecular brain, 12, 1-4.

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

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