Mouse Anti-PCDH15 Recombinant Antibody (CBYC-P204) (CBMAB-P0967-YC)

Name: Mouse Anti-PCDH15 Recombinant Antibody (CBYC-P204)
SKU: CBMAB-P0967-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-P204

Application

ELISA, ICC

Specificity

Human

Antibody Isotype

IgG2b

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

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 28-1376

More Infomation

Target

Full Name

Protocadherin Related 15

Introduction

PCDH15 is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur.

Entrez Gene ID

65217

UniProt ID

Q96QU1

Alternative Names

Protocadherin Related 15; Cadherin-Related Family Member 15; USH1F; Deafness, Autosomal Recessive 23; Protocadherin 15; Protocadherin-15; CDHR15; DFNB23;

Function

Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function.

Biological Process

Cell adhesionManual Assertion Based On ExperimentIBA:GO_Central
EquilibrioceptionManual Assertion Based On ExperimentIMP:HGNC-UCL
Homophilic cell adhesion via plasma membrane adhesion moleculesIEA:InterPro
Inner ear developmentIEA:InterPro
Photoreceptor cell maintenanceManual Assertion Based On ExperimentIMP:HGNC-UCL
Sensory perception of light stimulusManual Assertion Based On ExperimentIMP:HGNC-UCL
Sensory perception of soundManual Assertion Based On ExperimentIMP:HGNC-UCL

Cellular Location

Cell membrane
Efficient localization to the plasma membrane requires the presence of LHFPL5.
Isoform 3
Secreted

Involvement in disease

Usher syndrome 1F (USH1F):
USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.
Usher syndrome 1D/F (USH1DF):
USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern.
Deafness, autosomal recessive, 23 (DFNB23):
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

Topology

Extracellular: 27-1376
Helical: 1377-1397
Cytoplasmic: 1398-1955

Mori, D., Inami, C., Ikeda, R., Sawahata, M., Urata, S., Yamaguchi, S., ... & Ozaki, N. (2024). Mice with deficiency in Pcdh15, a gene associated with bipolar disorders, exhibit significantly elevated diurnal amplitudes of locomotion and body temperature.

Riaz, S., Sethna, S., Duncan, T., Naeem, M. A., Redmond, T. M., Riazuddin, S., ... & Ahmed, Z. M. (2023). Dual AAV-based PCDH15 gene therapy achieves sustained rescue of visual function in a mouse model of Usher syndrome 1F. Molecular Therapy, 31(12), 3490-3501.

Ivanchenko, M. V., Hathaway, D. M., Klein, A. J., Pan, B., Strelkova, O., De-la-Torre, P., ... & Corey, D. P. (2023). Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F. Nature Communications, 14(1), 2400.

Albaradie, R., Uzair, M., & Bashir, S. (2023). Sensorineural hearing loss due to a novel mutation in the PCDH15 gene: A case study. Brain Disorders, 9, 100064.

Abushukair, H. M., & Alragheb, B. O. A. (2022). Overexpression of protocadherin related 15 (PCDH15) gene predicts better prognosis in low-grade glioma patients. Cancer Research, 82(12_Supplement), 2727-2727.

Sethna, S., Zein, W. M., Riaz, S., Giese, A. P., Schultz, J. M., Duncan, T., ... & Ahmed, Z. M. (2021). Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome. Elife, 10, e67361.

Riaz, S., Sethna, S., Vandenberghe, L. H., Carvalho, L., & Ahmed, Z. (2021). PCDH15-associated retinopathy in an orthologous Usher mouse and evaluation of potential therapies for progressive vision loss. Investigative Ophthalmology & Visual Science, 62(8), 1186-1186.

Xu, S., Moss, T. J., Laura Rubin, M., Ning, J., Eterovic, K., Yu, H., ... & Esmaeli, B. (2020). Whole-exome sequencing for ocular adnexal sebaceous carcinoma suggests PCDH15 as a novel mutation associated with metastasis. Modern Pathology, 33(7), 1256-1263.

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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

Isotype control

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

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