GUCY2D Antibody – Mouse Monoclonal

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