PGCE Antibody – Rabbit Polyclonal

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

Cellular Component: integral to membrane; intracellular; plasma membrane

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

Biological Process: cGMP biosynthetic process; protein amino acid phosphorylation; visual perception