GUCY2D, Blocking Peptide

Retinal guanylyl cyclase 1; RETGC-1; Guanylate cyclase 2D; retinal; Rod outer segment membrane guanylate cyclase; ROS-GC; GUCY2D; CORD6; GUC1A4; GUC2D; RETGC; RETGC1

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

Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Small volumes of GUCY2D blocking peptide 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.

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.

120,059 Da

guanylate cyclase 2D, retinal

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

Biological Process: receptor guanylyl cyclase signaling pathway; regulation of rhodopsin mediated signaling

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

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