Guanylate Cyclase Activator 1A, Retina (GUCA1A)
[Edit]GCAP; COD3; GCAP1; GUCA; GUCA1; C6orf131; Cone Dystrophy 3; Guanylyl cyclase-activating protein 1
GUCA1A 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.
Organism species: Homo sapiens (Human)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | n/a | Recombinant Guanylate Cyclase Activator 1A, Retina (GUCA1A) | Recombinant Protein Customized Service Offer |
Antibodies | n/a | Monoclonal Antibody to Guanylate Cyclase Activator 1A, Retina (GUCA1A) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to Guanylate Cyclase Activator 1A, Retina (GUCA1A) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for Guanylate Cyclase Activator 1A, Retina (GUCA1A) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for Guanylate Cyclase Activator 1A, Retina (GUCA1A) | ELISA Kit Customized Service Offer |
Organism species: Mus musculus (Mouse)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | n/a | Recombinant Guanylate Cyclase Activator 1A, Retina (GUCA1A) | Recombinant Protein Customized Service Offer |
Antibodies | n/a | Monoclonal Antibody to Guanylate Cyclase Activator 1A, Retina (GUCA1A) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to Guanylate Cyclase Activator 1A, Retina (GUCA1A) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for Guanylate Cyclase Activator 1A, Retina (GUCA1A) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for Guanylate Cyclase Activator 1A, Retina (GUCA1A) | ELISA Kit Customized Service Offer |
Organism species: Rattus norvegicus (Rat)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | n/a | Recombinant Guanylate Cyclase Activator 1A, Retina (GUCA1A) | Recombinant Protein Customized Service Offer |
Antibodies | n/a | Monoclonal Antibody to Guanylate Cyclase Activator 1A, Retina (GUCA1A) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to Guanylate Cyclase Activator 1A, Retina (GUCA1A) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for Guanylate Cyclase Activator 1A, Retina (GUCA1A) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for Guanylate Cyclase Activator 1A, Retina (GUCA1A) | ELISA Kit Customized Service Offer |
- "Molecular characterization of human and mouse photoreceptor guanylate cyclase-activating protein (GCAP) and chromosomal localization of the human gene."J. Biol. Chem. 269:31080-31089(1994) [PubMed] [Europe PMC] [Abstract]
- "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
- "The DNA sequence and analysis of human chromosome 6." Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
- "A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1."Hum. Mol. Genet. 7:273-277(1998) [PubMed] [Europe PMC] [Abstract]
- "Ca(2+)-binding proteins in the retina: from discovery to etiology of human disease."Biochim. Biophys. Acta 1498:233-251(2000) [PubMed] [Europe PMC] [Abstract]
- "Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1."Arch. Ophthalmol. 119:96-105(2001) [PubMed] [Europe PMC] [Abstract]
- "Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy."Am. J. Hum. Genet. 69:471-480(2001) [PubMed] [Europe PMC] [Abstract]
- "A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration."Invest. Ophthalmol. Vis. Sci. 45:3863-3870(2004) [PubMed] [Europe PMC] [Abstract]
- "A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD)."Invest. Ophthalmol. Vis. Sci. 46:1124-1132(2005) [PubMed] [Europe PMC] [Abstract]
- "Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A)."Mol. Vis. 11:143-151(2005) [PubMed] [Europe PMC] [Abstract]
- "Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase."Hum. Mutat. 30:E782-E796(2009) [PubMed] [Europe PMC] [Abstract]