Aliases for GUCA1A Gene
External Ids for GUCA1A Gene
Previous HGNC Symbols for GUCA1A Gene
Previous GeneCards Identifiers for GUCA1A Gene
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]
GeneCards Summary for GUCA1A Gene
GUCA1A (Guanylate Cyclase Activator 1A) is a Protein Coding gene. Diseases associated with GUCA1A include cone dystrophy-3 and cone-rod dystrophy 6. Among its related pathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. GO annotations related to this gene include calcium ion binding and guanylate cyclase regulator activity. An important paralog of this gene is KCNIP3.
UniProtKB/Swiss-Prot for GUCA1A Gene
Stimulates retinal guanylyl cyclase when free calcium ions concentration is low and inhibits guanylyl cyclase when free calcium ions concentration is elevated (PubMed:19459154). 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.