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Mouse Anti-CRX Recombinant Antibody (2F12) (V2LY-1206-LY1272)


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Summary

Host Animal
Mouse
Specificity
Human, Rat
Clone
2F12
Antibody Isotype
IgG2a, κ
Application
ELISA, WB

Basic Information

Immunogen
CRX (aa1-95) partial recombinant protein.
Host Species
Mouse
Specificity
Human, Rat
Antibody Isotype
IgG2a, κ
Clonality
Monoclonal Antibody

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
PBS
Preservative
None
Concentration
Batch dependent
Purity
>95% as determined by analysis by SDS-PAGE
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
cone-rod homeobox
Entrez Gene ID
Human1406
Rat60446
UniProt ID
HumanO43186
RatQ9JLT8
Function
Transcription factor that binds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of several photoreceptor-specific genes, including the opsin genes. Acts synergistically with other transcription factors, such as NRL, RORB and RAX, to regulate photoreceptor cell-specific gene transcription. Essential for the maintenance of mammalian photoreceptors.
Biological Process
Animal organ morphogenesis Source: ProtInc
Cell differentiation Source: UniProtKB-KW
Nervous system development Source: UniProtKB-KW
Positive regulation of transcription by RNA polymerase II Source: NTNU_SB
Regulation of transcription, DNA-templated Source: UniProtKB
Regulation of transcription by RNA polymerase II Source: GO_Central
Response to stimulus Source: UniProtKB-KW
Visual perception Source: ProtInc
Cellular Location
Nucleus
Involvement in disease
Leber congenital amaurosis 7 (LCA7):
A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
Cone-rod dystrophy 2 (CORD2):
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.
Retinitis pigmentosa (RP):
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
More Infomation

Clanor, P. M., Buchholz, C., Hayes, J. E., Friedman, M. A., White, A. M., Enke, R. A., & Berndsen, C. E. (2022). Structural and functional analysis of the human Cone-rod homeobox transcription factor. bioRxiv.

Wang, Y., Li, X., Yu, Y., Liang, J., Liu, Y., Chen, Y., ... & Sun, X. (2021). Modeling Cone/Cone–Rod Dystrophy Pathology by AAV-Mediated Overexpression of Mutant CRX Protein in the Mouse Retina. Translational Vision Science & Technology, 10(7), 25-25.

Kruczek, K., Qu, Z., Gentry, J., Fadl, B. R., Gieser, L., Hiriyanna, S., ... & Swaroop, A. (2021). Gene therapy of dominant CRX-Leber congenital amaurosis using patient stem cell-derived retinal organoids. Stem cell reports, 16(2), 252-263.

Rohde, K., Hertz, H., & Rath, M. F. (2019). Homeobox genes in melatonin‐producing pinealocytes: Otx2 and Crx act to promote hormone synthesis in the mature rat pineal gland. Journal of pineal research, 66(4), e12567.

Chapi, M., Sabbaghi, H., Suri, F., Alehabib, E., Rahimi-Aliabadi, S., Jamali, F., ... & Daftarian, N. (2019). Incomplete penetrance of CRX gene for autosomal dominant form of cone-rod dystrophy. Ophthalmic Genetics, 40(3), 259-266.

Wang, L., Qi, A., Pan, H., Liu, B., Feng, J., Chen, W., & Wang, B. (2018). A novel CRX frameshift mutation causing cone-rod dystrophy in a Chinese family: A case report. Medicine, 97(32).

Assawachananont, J., Kim, S. Y., Kaya, K. D., Fariss, R., Roger, J. E., & Swaroop, A. (2018). Cone-rod homeobox CRX controls presynaptic active zone formation in photoreceptors of mammalian retina. Human Molecular Genetics, 27(20), 3555-3567.

D’Esposito, F., Cennamo, G., De Crecchio, G., Maltese, P. E., Cecchin, S., Bertelli, M., ... & Cordeiro, M. F. (2018). Multimodal imaging in autosomal dominant cone-rod dystrophy caused by novel CRX variant. Ophthalmic research, 60(3), 169-175.

Griffith, J. F., DeBenedictis, M. J., & Traboulsi, E. I. (2018). A novel dominant CRX mutation causes adult-onset macular dystrophy. Ophthalmic genetics, 39(1), 120-124.

Møller, M., Rath, M. F., Ludvigsen, M., Honoré, B., & Vorum, H. (2017). Diurnal expression of proteins in the retina of the blind cone‐rod homeobox (Crx−/−) mouse and the 129/Sv mouse: a proteomic study. Acta ophthalmologica, 95(7), 717-726.

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

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