Entrez gene ID | | 2978 |
Official gene symbol | | GUCA1A |
Full name | | guanylate cyclase activator 1A (retina) |
Aliases | | ,C6orf131,COD3,GCAP,GCAP1,GUCA,GUCA1,dJ139D8.6, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 6 Locus: 6p21.1 |
Gene position | | 42123144 - 42147794 Map Viewer |
Gene orientation | | plus |
Gene size | | 24651 bp |
Gene sequence |
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OMIM ID | | 600364 |
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