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Mouse Anti-CDHR1 Recombinant Antibody (E-8) (CBMAB-P0162-YC)

Provided herein is a Mouse monoclonal antibody against Human Cadherin Related Family Member 1. The antibody can be used for immunoassay techniques, such as WB, IP, IF, ELISA.
See all CDHR1 antibodies

Summary

Host Animal
Mouse
Specificity
Human, Mouse, Rat
Clone
E-8
Antibody Isotype
IgG
Application
WB, IP, IF, ELISA

Basic Information

Specificity
Human, Mouse, Rat
Antibody Isotype
IgG
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.

Target

Full Name
Cadherin Related Family Member 1
Introduction
CDHR1 (Cadherin Related Family Member 1) is a protein coding gene. Diseases associated with CDHR1 include Cone-Rod Dystrophy 15 and Fundus Dystrophy. Gene Ontology annotations related to this gene include calcium ion binding. An important paralog of the gene is CDHR2.
Entrez Gene ID
Human92211
Mouse170677
Rat93662
UniProt ID
HumanQ96JP9
MouseQ8VHP6
RatQ91XU7
Alternative Names
CORD15; PCDH21; PRCAD; RP65
Function
Potential calcium-dependent cell-adhesion protein. May be required for the structural integrity of the outer segment (OS) of photoreceptor cells (By similarity).
Biological Process
Cell adhesion Source: GO_Central
Homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
Photoreceptor cell maintenance Source: UniProtKB
Photoreceptor cell morphogenesis Source: UniProtKB
Photoreceptor cell outer segment organization Source: UniProtKB
Cellular Location
Cell membrane. Localized at the junction between the inner and outer segments of rod and cone photoreceptors cells. Confined to the base of the OS. Localized on the edges of nascent evaginating disks on the side of the OS opposite the connecting cilium. Expressed at postnatal day 2 at the apical tip of the rod photoreceptor cells, the site of the developing OS. Colocalized with rhodopsin between postnatal days 2 and 9 at the base of the growing OS region (By similarity).
Involvement in disease
Cone-rod dystrophy 15 (CORD15): An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.
Topology
Extracellular: 20-700
Helical: 701-721
Cytoplasmic: 722-859
PTM
Undergoes proteolytic cleavage; produces a soluble 95 kDa N-terminal fragment and a 25 kDa cell-associated C-terminal fragment.

Ba-Abbad, R., Robson, A. G., Mahroo, O. A., Wright, G., Schiff, E., Duignan, E. S., ... & Webster, A. R. (2021). A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy. Eye, 35(5), 1482-1489.

Yusuf, I. H., McClements, M. E., MacLaren, R. E., & Issa, P. C. (2021). Deep phenotyping of the Cdhr1−/− mouse validates its use in pre-clinical studies for human CDHR1-associated retinal degeneration. Experimental Eye Research, 208, 108603.

Malechka, V., Cukras, C. A., Chew, E. Y., Blain, D., Jeffrey, B. G., Ullah, E., ... & Zein, W. M. (2021). Clinical and Molecular Findings in a CDHR1 Retinal Dystrophy Cohort. Investigative Ophthalmology & Visual Science, 62(8), 3219-3219.

Gan, L., Yang, C., Shu, Y., Liu, F., Sun, R., Deng, B., ... & Li, J. (2020). Identification of a novel homozygous nonsense mutation in the CDHR1 gene in a Chinese family with autosomal recessive retinitis pigmentosa. Clinica Chimica Acta, 507, 17-22.

Haque, M. N., Kurata, K., Hosono, K., Ohtsubo, M., Ohishi, K., Sato, M., ... & Hotta, Y. (2019). A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants. Human genome variation, 6(1), 1-5.

Issa, P. C., Gliem, M., Yusuf, I. H., Birtel, J., Müller, P. L., Mangold, E., ... & Bolz, H. J. (2019). A specific Macula-predominant retinal phenotype is associated with the CDHR1 variant c. 783G> A, a silent mutation leading to in-frame exon skipping. Investigative ophthalmology & visual science, 60(10), 3388-3397.

Fu, J., Ma, L., Cheng, J., Yang, L., Wei, C., Fu, S., ... & Fu, J. (2018). A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS‐based genetic diagnosis. Journal of cellular and molecular medicine, 22(11), 5662-5669.

Bessette, A. P., DeBenedictis, M. J., & Traboulsi, E. I. (2018). Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature. Ophthalmic genetics, 39(1), 51-55.

Stingl, K., Mayer, A. K., Llavona, P., Mulahasanovic, L., Rudolph, G., Jacobson, S. G., ... & Weisschuh, N. (2017). CDHR1 mutations in retinal dystrophies. Scientific reports, 7(1), 1-11.

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

Custom Antibody Labeling

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