Gene Symbol | GUCA1A |
Entrez Gene ID | 2978 |
Full Name | guanylate cyclase activator 1A |
Synonyms | C6orf131,COD3,CORD14,GCAP,GCAP1,GUCA,GUCA1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(Human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Cone dystrophy-3, 602093 (3); Cone-rod dystrophy 14, 602093 (3) |