Human guanylate cyclase 2D, membrane (retina-specific) ELISA Kit | GUCY2D elisa kit
Human Retinal guanylyl cyclase 1, GUCY2D ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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 Description
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
Research Articles on GUCY2D
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Product Notes
The Human GUCY2D gucy2d (Catalog #AAA9331774) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9331774 ELISA Kit recognizes Human GUCY2D. It is sometimes possible for the material contained within the vial of "guanylate cyclase 2D, membrane (retina-specific), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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