Anti-RetGC-1/GUCY2D Antibody, clone 6D8.2

Descrição detalhada : Retinal guanylyl cyclase 1 (EC 4.6.1.2; UniProt Q02846; also known as Guanylate cyclase 2D, retinal, RETGC-1, Rod outer segment membrane guanylate cyclase, ROS-GC) is encoded by the GUCY2D (also known as CORD6, GUC1A4, GUC2D, RETGC, RETGC1) gene (Gene ID 3000) in human. RetGC-1 is a membrane-bound retinal guanylyl cyclase expressed predominantly in the cone and rod photoreceptors in the cone outer segment. RetGC-1 and the related RetGC-2 mediate the synthesis of cyclic 3', 5'-guanosine monophosphate (cGMP) from guanosine triphosphate in mammalian photoreceptor cells, where RetGC-1 and its associated activator proteins are responsible for the Ca2+-sensitive restoration of cGMP levels after light activation of the phototransduction cascade. RetGC-1 is produced with a signal peptide (a.a. 1-51) sequence, the removal of which yields the mature enzyme with an exracellular domain (a.a. 52-462), followed by a transmembrane segment (a.a. 463-487) and a cytoplasmic tail (a.a. 488-1103) that contains a protein kinase homology domain (a.a. 525-808), a dimerization domain, and the guanylate cyclase catalytic domain (a.a. 880-1010). Heterozygous mutations in the GUCY2D gene have been shown to cause autosomal dominant cone and cone-rod dystrophies (adCODs and adCORDs, respectively), while homozygous or compound heterozygous mutations cause autosomal recessively inherited Leber Congenital Amaurosis (LCA), the most severe form of inherited retinopathy, resulting in total blindness or greatly impaired vision at birth or in early infancy.
Sinónimos : Retinal guanylyl cyclase 1, Guanylate cyclase 2D, retinal, RETGC-1, Rod outer segment membrane guanylate cyclase, ROS-GC
Armazenamento : +2°C to +8°C
Embalagem : 1X1EA