GCAP1 Blocking Peptide | GUCA1A blocking peptide
GCAP1 Antibody (C-term) Blocking Peptide
NCBI and Uniprot Product Information
NCBI Description
This gene encodes an enzyme that plays a role in the recovery of retinal photoreceptors from photobleaching. This enzyme promotes the activity of retinal guanylyl cyclase-1 (GC1) at low calcium concentrations and inhibits GC1 at high calcium concentrations. Mutations in this gene can cause cone dystrophy 3 and code-rod dystrophy 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Uniprot Description
GUCA1A: Stimulates guanylyl cyclase 1 (GC1) when free calcium ions concentration is low and inhibits GC1 when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of GC is a key event in recovery of the dark state of rod photoreceptors following light exposure. Defects in GUCA1A are the cause of cone dystrophy type 3 (COD3). COD3 is an autosomal dominant cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies, in which some loss of peripheral vision also occurs.
Chromosomal Location of Human Ortholog: 6p21.1
Cellular Component: plasma membrane
Molecular Function: calcium ion binding; calcium sensitive guanylate cyclase activator activity; guanylate cyclase regulator activity
Biological Process: positive regulation of guanylate cyclase activity; regulation of rhodopsin mediated signaling
Disease: Cone Dystrophy 3