This gene plays a role in the recovery of retinal photoreceptors from photobleaching. In the recovery phase, the phototransduction messeneger cGMP is replenished by retinal guanylyl cyclase-1 (GC1). GC1 is activated by decreasing Ca(2+) concentrations following photobleaching. The protein encoded by this gene, guanylyl cyclase activating protein 1 (GCAP1), mediates the sensitivity of GC1 to Ca(2+) concentrations. GCAP1 promotes activity of GC1 at low Ca(2+) concentrations and inhibits GC1 activity at high Ca(2+) concentrations. Mutations in this gene cause autosomal dominant cone dystrophy (COD3); a disease characterized by reduced visual acuity associated with progressive loss of color vision. Mutations in this gene prohibit the inactivation of RetGC1 at high Ca(2+) concentrations; causing the constitutive activation of RetGC1 and, presumably, increased cell death. This gene is expressed in retina and spermatagonia.
GUCA1A; guanylate cyclase activator 1A (retina); C6orf131, chromosome 6 open reading frame 131 , GUCA, GUCA1; guanylyl cyclase-activating protein 1; COD3; cone dystrophy 3; dJ139D8.6; GCAP; GCAP1; GCAP 1; guanylin 1, retina; guanylate cyclase-activating; guanylate cyclase-activating protein, photoreceptor 1; GUCA; GUCA1; CORD14; C6orf131; COD3, GCAP, GUCA, GCAP1, GUCA1, CORD14, C6orf131, dJ139D8.6; guanylate cyclase activator 1A