Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Gently mix before use. Optimal concentrations and conditions for each application should be determined by the user.
Immunogen sequence: MGNVMEGKSV EELSSTECHQ WYKKFMTECP SGQLTLYEFR QFFGLKNLSP SASQYVEQMF ETFDFNKDGY
Guanylate cyclase-activating protein is a l Ca(2+)-binding protein that upregulates synthesis of cGMP in photoreceptors. The known mammalian GCAPs are more than 90% similar, consisting of 201 to 205 amino acids, and containing 3 identically conserved Ca(2+)-binding sites. The GUCA1A gene, also termed GCAP1, is transcribed into a single 1.7-kb mRNA species detectable only in the retina. In a 4-generation British family with typical clinical features of autosomal dominant cone dystrophy a tyr99-to-cys mutation) in the GUCA1A gene has been identified. Another family with a pro50-to-leu mutation in GUCA1A demonstrated phenotypic variability ranging from mild photophobia to rod-cone dystrophy. The mutant protein could activate guanylate cyclase 1 (GUCY2D) and displayed similar calcium sensitivity to wildtype protein. However, there was a marked increase in the susceptibility to protease degradation and a reduction in the thermal stability of the pro50-to-leu mutation, which may depress cellular concentration and thereby contribute to retinal cell mortality.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: cone dystrophy 3; guanylate cyclase-activating protein, photoreceptor 1; guanylin 1, retina
Gene Aliases: C6orf131; COD3; CORD14; GCAP; GCAP1; GUCA; GUCA1
Entrez Gene ID: (Human) 2978
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