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Mouse Anti-PCDH19 Recombinant Antibody (2G10) (CBMAB-P0968-YC)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
2G10
Antibody Isotype
IgG2a, κ
Application
ELISA, WB

Basic Information

Immunogen
PCDH19 (NP_065817, 241-340 aa) partial recombinant protein with GST tag. Immunogen sequence: RLVPRDVEET DKMNVVSCSS LTSSLNYFDY HQQTLPLGCR RSESTFLNVE NQNTRNTSAN HIYHHSFNSQ GPQQPDLIIN GAPLPETENY SFDSNYVNSR
Specificity
Human
Antibody Isotype
IgG2a, κ
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!]

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 241-340

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
More Infomation

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

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