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General description
Retinal guanylyl cyclase 1 (EC 4.6.1.2; UniProt Q02846; also known as Guanylate cyclase 2D, retinal, RETGC-1, Rod outer segment membrane guanylate cyclase, ROS-GC) is encoded by the GUCY2D (also known as CORD6, GUC1A4, GUC2D, RETGC, RETGC1) gene (Gene ID 3000) in human. RetGC-1 is a membrane-bound retinal guanylyl cyclase expressed predominantly in the cone and rod photoreceptors in the cone outer segment. RetGC-1 and the related RetGC-2 mediate the synthesis of cyclic 3′, 5′-guanosine monophosphate (cGMP) from guanosine triphosphate in mammalian photoreceptor cells, where RetGC-1 and its associated activator proteins are responsible for the Ca2+-sensitive restoration of cGMP levels after light activation of the phototransduction cascade. RetGC-1 is produced with a signal peptide (a.a. 1-51) sequence, the removal of which yields the mature enzyme with an exracellular domain (a.a. 52-462), followed by a transmembrane segment (a.a. 463-487) and a cytoplasmic tail (a.a. 488-1103) that contains a protein kinase homology domain (a.a. 525-808), a dimerization domain, and the guanylate cyclase catalytic domain (a.a. 880-1010). Heterozygous mutations in the GUCY2D gene have been shown to cause autosomal dominant cone and cone-rod dystrophies (adCODs and adCORDs, respectively), while homozygous or compound heterozygous mutations cause autosomal recessively inherited Leber Congenital Amaurosis (LCA), the most severe form of inherited retinopathy, resulting in total blindness or greatly impaired vision at birth or in early infancy.
~120 kDa observed. 114.7/120.1 kDa (mature/pro-form) calculated.
Immunogen
Epitope: Kinase domain.
GST-tagged recombinant human RetGC-1/GUCY2D kinase domain fragmen.
Application
Research Category
Neuroscience
Research Sub Category
Sensory & PNS
This Anti-RetGC-1 Antibody, clone 6D8.2 is validated for use in Western Blotting for the detection of GUCY2D.
Biochem/physiol Actions
Clone 6D8.2 targets an epitope in the cytoplasmic kinase domain of human retinal guanylyl cyclase 1 (RetGC-1) encoded by the GUCY2D gene.
Physical form
Format: Purified
Protein G purified
Purified mouse monoclonal IgG1κ antibody in buffer containing 0.1 M Tris-Glycine (pH 7.4), 150 mM NaCl with 0.05% sodium azide.
Preparation Note
Stable for 1 year at 2-8°C from date of receipt.
Analysis Note
Evaluated by Western Blotting in Y79 human retinoblastoma cell lysate.
Western Blotting Analysis: 0.5 µg/mL of this antibody detected RetGC-1/GUCY2D in 10 µg of Y79 human retinoblastoma cell lysate.
Other Notes
Concentration: Please refer to lot specific datasheet.
Disclaimer
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
| biological source | mouse |
| Quality Segment | 100 |
| conjugate | unconjugated |
| antibody form | purified immunoglobulin |
| antibody product type | primary antibodies |
| clone | 6D8.2, monoclonal |
| species reactivity | human |
| technique(s) | western blot: suitable |
| isotype | IgG1κ |
| NCBI accession no. | NP_000171 |
| UniProt accession no. | Q02846 |
| shipped in | wet ice |
| target post-translational modification | unmodified |
| Gene Information | human ... GUCY2D(3000) |
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