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Mouse Anti-GUCA1A Recombinant Antibody (G2) (CBMAB-G5758-LY)

This product is antibody recognizes GUCA1A. The antibody G2 immunoassay techniques such as: WB.
See all GUCA1A antibodies
Published Data
Fig.1 Western blot analysis of GCAP1.
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Fig.2 In situ hybridization of GCAP2 transcripts in the human retina using antisense.
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Fig.3 Reactivity of retinal extracts with anti-GCAP1 and anti-GCAP2 antibodies.
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Summary

Host Animal
Mouse
Specificity
Cattle, Human
Clone
G2
Antibody Isotype
IgG2a
Application
WB

Basic Information

Immunogen
Bacterial expressed full length GCAP-1
Specificity
Cattle, Human
Antibody Isotype
IgG2a
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
1mg/ml BSA
Preservative
0.05% sodium azide
Concentration
1 mg/mL
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 activator 1A (retina)
Introduction
This gene encodes an enzyme that plays a role in the recovery of retinal photoreceptors from photobleaching. This enzyme promotes the activity of retinal guanylyl cyclase-1 (GC1) at low calcium concentrations and inhibits GC1 at high calcium concentrations. Mutations in this gene can cause cone dystrophy 3 and code-rod dystrophy 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Entrez Gene ID
Human2978
Cattle282243
UniProt ID
HumanP43080
CattleP46065
Function
Stimulates retinal guanylyl cyclase when free calcium ions concentration is low and inhibits guanylyl cyclase when free calcium ions concentration is elevated (PubMed:19459154, PubMed:30622141, PubMed:18706439, PubMed:30184081).

This Ca2+-sensitive regulation of retinal guanylyl cyclase is a key event in recovery of the dark state of rod photoreceptors following light exposure (By similarity).

May be involved in cone photoreceptor light response and recovery of response in bright light (By similarity).
Biological Process
Cellular response to calcium ion Source: UniProtKB
Phototransduction Source: Ensembl
Positive regulation of cGMP-mediated signaling Source: Ensembl
Positive regulation of guanylate cyclase activity Source: UniProtKB
Signal transduction Source: ProtInc
Visual perception Source: ProtInc
Cellular Location
Membrane; Photoreceptor inner segment; Photoreceptor outer segment. Present at higher levels in cone than in rod outer segments (PubMed:9620085). Subcellular location is not affected by light or dark conditions.
Involvement in disease
Cone dystrophy 3 (COD3):
An autosomal dominant cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs.
Cone-rod dystrophy 14 (CORD14):
An autosomal dominant form of cone-rod dystrophy, a retinal disease 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.

Allon, G., Arno, G., Robson, A. G., Neveu, M. M., Michaelides, M., Webster, A. R., & Mahroo, O. A. R. (2023). Genotypic and phenotypic findings in GUCA1A-associated retinopathy. Investigative Ophthalmology & Visual Science, 64(8), 4526-4526.

Varsanyi, B., Füstös, R., Vámos, R., Nagy, Z. Z., & Szabó, V. (2023). Novel mutation in GUCA1A gene causing autosomal dominant cone dystrophy in unrelated families from southwest Hungary. Investigative Ophthalmology & Visual Science, 64(8), 2793-2793.

Stepien, K. E., Stangel, N., & Rogers, J. (2022). Elucidating early cellular retinal structural changes in GUCA1A-related autosomal dominant cone dystrophy. Investigative Ophthalmology & Visual Science, 63(7), 4435-F0114.

Biasi, A., Marino, V., Dal Cortivo, G., Maltese, P. E., Modarelli, A. M., Bertelli, M., ... & Dell’Orco, D. (2021). A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase. International Journal of Molecular Sciences, 22(19), 10809.

Abbas, S., Marino, V., Weisschuh, N., Kieninger, S., Solaki, M., Dell’Orco, D., & Koch, K. W. (2020). Neuronal calcium sensor GCAP1 Encoded by GUCA1A exhibits heterogeneous functional properties in two cases of retinitis pigmentosa. ACS Chemical Neuroscience, 11(10), 1458-1470.

Jiang, Y. Y., O'Neil, E., Serrano, L., Pearson, D. J., Bennett, J., Aleman, T., & Morgan, J. I. W. (2020). Multi-modal adaptive optics imaging in GUCA1A-associated autosomal dominant cone-rod dystrophy. Investigative Ophthalmology & Visual Science, 61(7), 214-214.

Dell’Orco, D., & Dal Cortivo, G. (2019). Normal GCAPs partly compensate for altered cGMP signaling in retinal dystrophies associated with mutations in GUCA1A. Scientific Reports, 9(1), 1-11.

Mizobuchi, K., Hayashi, T., Katagiri, S., Yoshitake, K., Fujinami, K., Yang, L., ... & Nakano, T. (2019). Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies. Scientific Reports, 9(1), 1-9.

Marino, V., Dal Cortivo, G., Oppici, E., Maltese, P. E., D’Esposito, F., Manara, E., ... & Dell’Orco, D. (2018). A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors. Human molecular genetics, 27(24), 4204-4217.

Zahid, S., Branham, K., Schlegel, D., Pennesi, M. E., Michaelides, M., Heckenlively, J., ... & Jayasundera, T. (2018). GUCA1A. Retinal Dystrophy Gene Atlas, 111-111.

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

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