Retinal Guanylyl Cyclase 1 (GUCY2D), ELISA Kit

For Research Use Only. Not for use in diagnostic procedures.

Store all reagents at 2-8 degree C

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Small volumes of GUCY2D elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS9355783 is a ready-to-use microwell, strip-or-full plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the Retinal Guanylyl Cyclase 1 (GUCY2D) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing GUCY2D. The ELISA analytical biochemical technique of the MBS9355783 kit is based on GUCY2D antibody-GUCY2D antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect GUCY2D antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, GUCY2D. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

120,059 Da

guanylate cyclase 2D, membrane (retina-specific)

retinal guanylyl cyclase 1

Retinal guanylyl cyclase 1

CORD6; GUC1A4; GUC2D; RETGC; RETGC1; RETGC-1; ROS-GC  [Similar Products]

GUC2D_HUMAN

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, Dec 2008]

GUCY2D: Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in the resynthesis of cGMP required for recovery of the dark state after phototransduction. Defects in GUCY2D are the cause of Leber congenital amaurosis type 1 (LCA1). LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. Defects in GUCY2D are the cause of cone-rod dystrophy type 6 (CORD6). CORDs are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are 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. Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.

Protein type: Kinase, protein; Guanylyl cyclase; Nucleotide Metabolism - purine; Lyase; Receptor, misc.; Membrane protein, integral; Protein kinase, dual-specificity (receptor); EC 4.6.1.2; Protein kinase, RGC; RGC group; RGC family

Chromosomal Location of Human Ortholog: 17p13.1

Cellular Component: guanylate cyclase complex, soluble; integral to plasma membrane; nuclear outer membrane

Molecular Function: adenylate cyclase activity; ATP binding; GTP binding; guanylate cyclase activity; protein kinase activity; receptor activity

Biological Process: cGMP biosynthetic process; phototransduction, visible light; protein amino acid phosphorylation; receptor guanylyl cyclase signaling pathway; regulation of rhodopsin mediated signaling; rhodopsin mediated signaling; visual perception

Disease: Cone-rod Dystrophy 6; Leber Congenital Amaurosis 1

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