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Mouse Anti-GUCY2D Recombinant Antibody (7E5) (CBMAB-A3678-LY)

The product is antibody recognizes GUCY2D. The antibody 7E5 immunoassay techniques such as: WB, ELISA.
See all GUCY2D antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
7E5
Antibody Isotype
IgG1, κ
Application
WB, ELISA

Basic Information

Immunogen
GUCY2D (NP_000171, 521 a.a. ~ 630 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Specificity
Human
Antibody Isotype
IgG1, 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!]

Format
Liquid
Purity
> 95% Purity determined 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
guanylate cyclase 2D, membrane (retina-specific)
Introduction
This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases. [provided by RefSeq]
Entrez Gene ID
3000
UniProt ID
Q02846
Alternative Names
CORD5; CORD6; CYGD; GUC1A4; GUC2D; LCA; LCA1; RETGC-1; ROS-GC1; retGC
Function
Catalyzes the synthesis of cyclic GMP (cGMP) in rods and cones of photoreceptors. Plays an essential role in phototransduction, by mediating cGMP replenishment (PubMed:21928830, PubMed:30319355, PubMed:26100624, PubMed:9600905, PubMed:15123990).

May also participate in the trafficking of membrane-asociated proteins to the photoreceptor outer segment membrane (By similarity).
Biological Process
cGMP biosynthetic process Source: GO_Central
cGMP-mediated signaling Source: Ensembl
Receptor guanylyl cyclase signaling pathway Source: GO_Central
Regulation of rhodopsin mediated signaling pathway Source: Reactome
Signal transduction Source: GO_Central
Visual perception Source: ProtInc
Cellular Location
Endoplasmic reticulum membrane; Photoreceptor outer segment membrane
Involvement in disease
Leber congenital amaurosis 1 (LCA1):
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 6 (CORD6):
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.
Choroidal dystrophy, central areolar, 1 (CACD1):
A form of central areolar choroidal dystrophy, a retinal disease that affects the macula and results in a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris. CACD1 inheritance is autosomal recessive.
Night blindness, congenital stationary, 1I (CSNB1I):
A form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. CSNB1I patients present with night blindness from infancy or early childhood. Visual acuity is preserved, but some patients have color vision and/or visual field defects. Progression to mild retinitis pigmentosa may occur. CSNB1I inheritance is autosomal recessive.
Topology
Extracellular: 52-462
Helical: 463-487
Cytoplasmic: 488-1103

Hahn, L. C., Georgiou, M., Almushattat, H., van Schooneveld, M. J., de Carvalho, E. R., Wesseling, N. L., ... & Boon, C. J. (2022). The Natural History of Leber Congenital Amaurosis and Cone–Rod Dystrophy Associated with Variants in the GUCY2D Gene. Ophthalmology Retina, 6(8), 711-722.

Jacobson, S. G., Cideciyan, A. V., Ho, A. C., Peshenko, I. V., Garafalo, A. V., Roman, A. J., ... & Boye, S. E. (2021). Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations. Iscience, 24(5), 102409.

Liu, X., Fujinami, K., Kuniyoshi, K., Kondo, M., Ueno, S., Hayashi, T., ... & Japan Eye Genetics Consortium. (2020). Clinical and genetic characteristics of 15 affected patients from 12 Japanese families with GUCY2D-associated retinal disorder. Translational vision science & technology, 9(6), 2-2.

Bouzia, Z., Georgiou, M., Hull, S., Robson, A. G., Fujinami, K., Rotsos, T., ... & Michaelides, M. (2020). GUCY2D-associated Leber congenital amaurosis: a retrospective natural history study in preparation for trials of novel therapies. American Journal of Ophthalmology, 210, 59-70.

McCullough, K. T., Boye, S. L., Fajardo, D., Calabro, K., Peterson, J. J., Strang, C. E., ... & Boye, S. E. (2019). Somatic gene editing of GUCY2D by AAV-CRISPR/Cas9 alters retinal structure and function in mouse and macaque. Human gene therapy, 30(5), 571-589.

Wimberg, H., Lev, D., Yosovich, K., Namburi, P., Banin, E., Sharon, D., & Koch, K. W. (2018). Photoreceptor guanylate cyclase (GUCY2D) mutations cause retinal dystrophies by severe malfunction of Ca2+-dependent cyclic GMP synthesis. Frontiers in molecular neuroscience, 11, 348.

Sharon, D., Wimberg, H., Kinarty, Y., & Koch, K. W. (2018). Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D. Progress in retinal and eye research, 63, 69-91.

Sato, S., Peshenko, I. V., Olshevskaya, E. V., Kefalov, V. J., & Dizhoor, A. M. (2018). GUCY2D cone–rod dystrophy-6 is a “phototransduction disease” triggered by abnormal calcium feedback on retinal membrane guanylyl cyclase 1. Journal of Neuroscience, 38(12), 2990-3000.

Stunkel, M. L., Brodie, S. E., Cideciyan, A. V., Pfeifer, W. L., Kennedy, E. L., Stone, E. M., ... & Drack, A. V. (2018). Expanded retinal disease spectrum associated with autosomal recessive mutations in GUCY2D. American journal of ophthalmology, 190, 58-68.

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

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