| Guanylyl cyclase GC-E ELISA Kit|
Guanylyl cyclase GC-E Recombinant
Guanylyl cyclase GC-E Antibody
|Also known as Guanylyl cyclase GC-E (Guanylate cyclase 2E). |
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 22.214.171.124; Guanylyl cyclase; Kinase, protein; Lyase; Membrane protein, integral; Nucleotide Metabolism - purine; Protein kinase, RGC; Protein kinase, dual-specificity (receptor); RGC family; RGC group; Receptor, misc.
Cellular Component: guanylate cyclase complex, soluble; plasma membrane
Molecular Function: guanylate cyclase activity; identical protein binding
Biological Process: cGMP biosynthetic process; receptor guanylyl cyclase signaling pathway
| Gucy2e ELISA Kit|
| Guc2e ELISA Kit|