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GCAP / GUCA1A
guanylate cyclase activator 1A (retina)
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.
| Gene Name: | guanylate cyclase activator 1A (retina) |
| Synonyms: | GUCA1A, C6orf131, COD3, CORD14, GCAP1, Guanylate cyclase activator 1A, GCAP, GCAP 1, Guanylin 1, retina, Cone dystrophy 3, DJ139D8.6, GUCA, GUCA1 |
| Target Sequences: | NM_000409 NP_000400.2 P43080 |
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