配列MGNVMEGKSVEELSSTECHQWYKKFMTECPSGQLTLYEFRQFFGLKNLSP SASQYVEQMFETFDFNKDGYIDFMEYVAALSLVLKGKVEQKLRWYFKLYD VDGNGCIDRDELLTIIQAIRAINPCSDTTMTAEEFTDTVFSKIDVNGDGE LSLEEFIEGVQKDQMLLDTLTRSLDLTRIVRRLQNGEQDEEGADEAAEAA G
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
備考Protein concentration is above or equal to 0.05 mg/ml. Best use within three months from the date of receipt of this protein.
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Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00 Constituents: 0.79% Tris HCl, 0.3% Glutathione
Guanylate Cyclase Activating Protein Photoreceptor 1
Guanylate cyclase activator 1A
guanylyl cyclase activating protein 1
Guanylyl cyclase-activating protein 1
機能Stimulates guanylyl cyclase 1 (GC1) when free calcium ions concentration is low and inhibits GC1 when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of GC is a key event in recovery of the dark state of rod photoreceptors following light exposure.
組織特異性Retina; cone outer and inner segments, in particular, in disk membrane regions, and to a lesser extent rod inner and outer segments.
関連疾患Defects in GUCA1A are the cause of cone dystrophy type 3 (COD3) [MIM:602093]. COD3 is an autosomal dominant cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies, in which some loss of peripheral vision also occurs.