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Mouse Anti-CRX Recombinant Antibody (CBXC-1550) (CBMAB-C3702-CQ)

This product is a mouse antibody that recognizes CRX. The antibody CBXC-1550 can be used for immunoassay techniques such as: ELISA, WB.
See all CRX antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBXC-1550
Antibody Isotype
IgG
Application
ELISA, WB

Basic Information

Immunogen
CRX (NP_000545, 1aa-95aa) partial recombinant protein with GST tag.
Specificity
Human
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!]

Format
Liquid
Buffer
PBS, pH 7.4
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
cone-rod homeobox
Introduction
CRX (Cone-Rod Homeobox) is a Protein Coding gene. Diseases associated with CRX include Cone-Rod Dystrophy 2 and Leber Congenital Amaurosis 7. Among its related pathways are Circadian rythm related genes. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is OTX2.
Entrez Gene ID
1406
UniProt ID
O43186
Alternative Names
Cone-Rod Homeobox; Orthodenticle Homeobox 3; CORD2; Cone-Rod Homeobox Protein; LCA7; OTX3; CRD;
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.

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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