catalog number :
MBS9331774
products type :
ELISA Kit
products full name :
Human Retinal guanylyl cyclase 1, GUCY2D ELISA Kit
products short name :
guanylate cyclase 2D, membrane (retina-specific)
products name syn :
Human Retinal guanylyl cyclase 1 (GUCY2D) ELISA kit; CORD5; CORD6; CYGD; GUC1A4; GUC2D; LCA; LCA1; RCD2; RETGC-1; ROS-GC1; ROSGC; retGC; ; guanylate cyclase 2D; membrane (retina-specific)
other names :
retinal guanylyl cyclase 1; Retinal guanylyl cyclase 1; retinal guanylyl cyclase 1; ROS-GC; cone rod dystrophy 6; guanylate cyclase 2D, retinal; rod outer segment membrane guanylate cyclase; guanylate cyclase 2D, membrane (retina-specific); Guanylate cyclase 2D, retinal; Rod outer segment membrane guanylate cyclase; ROS-GC
products gene name :
GUCY2D
other gene names :
GUCY2D; GUCY2D; LCA; CYGD; LCA1; RCD2; CORD5; CORD6; GUC2D; ROSGC; retGC; GUC1A4; RETGC-1; ROS-GC1; CORD6; GUC1A4; GUC2D; RETGC; RETGC1; RETGC-1; ROS-GC
uniprot entry name :
GUC2D_HUMAN
specificity :
No significant cross-reactivity or interference between this analyte and analogues is observed.
storage stability :
Store all reagents at 2-8 degree C
other info1 :
Samples: Undiluted original Human body fluids, tissue homogenates, secretions or feces samples. This kit is NOT suitable for assaying non-biological sources of substances. Assay Type: Sandwich. Detection Range: 3.12 ng/ml - 100 ng/ml. Sensitivity: 1.0 ng/ml.
other info2 :
Intra-assay Precision: Intra-assay CV (%) is less than 15%. Inter-assay Precision: Inter-assay CV (%) is less than 15%. [CV(%) = SD/mean ×100].
products description :
Background/Introduction: This Quantitative Sandwich ELISA kit is only for in vitro research use only, not for drug, household, therapeutic or diagnostic applications! This kit is intended to be used for determination the level of GUCY2D (hereafter termed "analyte") in undiluted original Human body fluids, tissue homogenates, secretions or feces samples. This kit is NOT suitable for assaying non-biological sources of substances.
ncbi acc num :
NP_000171.1
ncbi gb acc num :
NM_000180.3
ncbi mol weight :
120,059 Da
ncbi pathways :
Olfactory Transduction Pathway (83087); Olfactory Transduction Pathway (498); Phototransduction Pathway (149806); Phototransduction Pathway (148660); Purine Metabolism Pathway (82944); Purine Metabolism Pathway (307); Visual Signal Transduction: Cones Pathway (137926); Visual Signal Transduction: Rods Pathway (138074)
ncbi summary :
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]
uniprot summary :
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: Protein kinase, dual-specificity (receptor); Protein kinase, RGC; Nucleotide Metabolism - purine; Lyase; Kinase, protein; Membrane protein, integral; EC 4.6.1.2; Receptor, misc.; Guanylyl cyclase; RGC group; RGC family. Chromosomal Location of Human Ortholog: 17p13.1. Cellular Component: nuclear outer membrane; integral to plasma membrane. Molecular Function: guanylate cyclase activity; GTP binding; receptor activity; ATP binding; protein kinase activity. Biological Process: rhodopsin mediated signaling; cGMP biosynthetic process; phototransduction, visible light; regulation of rhodopsin mediated signaling; visual perception; receptor guanylyl cyclase signaling pathway; protein amino acid phosphorylation. Disease: Leber Congenital Amaurosis 1; Cone-rod Dystrophy 6