| Description : |
This gene 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. Mutations in this gene prohibit the inactivation of RetGC1 at high Ca(2+) concentrations; causing the constitutive activation of RetGC1 and, presumably, increased cell death. This gene is expressed in retina and spermatagonia. |
| Source : |
In Vitro Cell Free System |
| Species : |
Human |
| Form : |
Liquid |
| Molecular Mass : |
47.520kDa inclusive of tags |
| Protein Length : |
201 amino acids |
| AA Sequence : |
MGNVMEGKSVEELSSTECHQWYKKFMTECPSGQLTLYEFR QFFGLKNLSPSASQYVEQMFETFDFNKDGYIDFMEYVAAL SLVLKGKVEQKLRWYFKLYDVDGNGCIDRDELLTIIQAIR AINPCSDTTMTAEEFTDTVFSKIDVNGDGELSLEEFIEGV QKDQMLLDTLTRSLDLTRIVRRLQNGEQDEEGADEAAEAA G |
| Purity : |
Proprietary Purification |
| Storage : |
Shipped on dry ice. Upon delivery aliquot and store at -80 centigrade. Avoid freeze / thaw cycles. |
| Storage Buffer : |
pH: 8.00. Constituents:0.79% Tris HCl, 0.31% Glutathione. |
