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 Choroidal Dystrophy, Central Areolar, 1. Among its related pathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. Gene Ontology (GO) annotations related to this gene include calcium ion binding and guanylate cyclase regulator activity. An important paralog of this gene is ENSG00000287363.
UniProtKB/Swiss-Prot Summary 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 (By similarity). May be involved in cone photoreceptor light response and recovery of response in bright light (By similarity).