Anti-GUC1A

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], Protein function: Stimulates retinal guanylyl cyclase when free calcium ions concentration is low and inhibits guanylyl cyclase when free calcium ions concentration is elevated (PubMed:19459154, PubMed:30622141, PubMed:18706439, PubMed:30184081). This Ca(2+)-sensitive regulation of retinal guanylyl cyclase is a key event in recovery of the dark state of rod photoreceptors following light exposure. May be involved in cone photoreceptor light response and recovery of response in bright light. [The UniProt Consortium] Recommended dilutions: WB 1:500-2000. Cellular localization: Membrane, Lipid-anchor . Photoreceptor inner segment . Cell projection, cilium, photoreceptor outer segment . Present at higher levels in cone than in rod outer segments (PubMed:9620085). Subcellular location is not affected by light or dark conditions. .