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GUCA1A mutations could cause significant variability in maculopathies, including central areolar choroidal dystrophy, which represents a severe pattern of maculopathy.
GCAP1 mutation is associated with macular dystrophy.
Retinal dystrophy-associated missense mutations (L84F, I107T) in GUCA1A with distinct molecular properties result in a similar aberrant regulation of the retinal guanylate cyclase.
Dimerization domain of RETGC1 (zeige GUCY2D Antikörper) is an essential part of GCAP1 and GCAP2 (zeige GUCA1B Antikörper) binding interface.
The GCAP1 and GCAP2 binding site(s) overlaps within the kinase homology and/or dimerization domains of retinal GC1.
GUCA1A and GUCY2D (zeige GUCY2D Antikörper) mutations are both accompanied by similar pattern of generalized cone dysfunction with a tendency to less involvement of the rod photoreceptors and a less severe phenotype in patients with GUCA1A.
RetGC1 (zeige GUCY2D Antikörper) activation by GCAP1 involves establishing a tight complex through the binding patch with an additional activation step involving Met-26, Lys (zeige LYZ Antikörper)-85, and Trp (zeige TBPL1 Antikörper)-94.
All four mutant GCAP1 family members showed sensitivity or acuity losses relative to normal observers.
we predicted that either haploinsufficiency or dominant-negative effect accompanied by creation of a novel function for the mutant protein is a possible mechanism of the retinal degeneration due to c.250C>T and c.320T>C of the GUCA1A
Patients with autosomal dominant cone-rod dystrophy caused by a D100G mutation in GUCA1A exhibit progressive vision loss early within the first decade of life identifiable by distinct ERG (zeige ERG Antikörper).
Data suggest that GCAP1 (Mg2 (zeige MCOLN1 Antikörper)+ vs. Ca2 (zeige CA2 Antikörper)+) exhibits conformational changes in Ca2 (zeige CA2 Antikörper)+ switch helix that are important in activation of RetGC1 (zeige GUCY2D Antikörper) (photoreceptor guanylate cyclase); myristoylation of GCAP1 is important as well in attaining activator conformation.
Data suggest that dimerization domain of GUCY2D (zeige GUCY2D Antikörper) operates as a calcium-sensitive regulatory module; GUCY2D (zeige GUCY2D Antikörper) requires correct conformation of monomer-monomer interface for interaction with guanylate cyclase activating proteins (GCAP1; GCAP2 (zeige GUCA1B Antikörper)).
Presence of bound magnesium (Mg2 (zeige MCOLN1 Antikörper)+) in guanylate cyclase activator (zeige RCVRN Antikörper) protein GCAP-1 is essential for its ability to stimulate retinal guanylyl cyclase.
Direct association between RD3 and GCAP1 is important for GC1 targeting.
The wild type and mutants of GCAP1 displayed large differences in Ca(2 (zeige CA2 Antikörper)+)-binding and regulation and preserved an intact secondary and tertiary structure with a significant rearrangement of the aromatic residues upon binding of Ca(2 (zeige CA2 Antikörper)+).
GCAP1 is the 'first-response' sensor protein that stimulates retinal membrane guanylyl cyclase early in the rod photoresponse.
results argue that there must be a cellular mechanism that limits GCAP1 access to RetGC2 (zeige GUCY2F Antikörper) and makes RetGC1 (zeige GUCY2D Antikörper) isozyme a preferential target for the disease-causing GCAP1 mutants.
Recombinant Gcap14 protein cosedimented with pure microtubules, indicating a direct binding between the two
Calcium-myristoyl Tug (zeige ASPSCR1 Antikörper) is a new mechanism for intramolecular tuning of calcium sensitivity and target enzyme interaction for guanylyl cyclase-activating protein 1
Stimulation by GCAP increases the maximal velocity (Vmax) for retinal guanylyl cyclase (RetGC1 (zeige GUCY2D Antikörper)) activation up to 20-fold in mouse photoreceptor outer segment.
GCAP-activated native retinal membrane (Ret (zeige RET Antikörper))GC1 and RetGC2 (zeige GUCY2F Antikörper) are less sensitive to inhibition by calcium ions in the presence of GCAP1 than GCAP2 (zeige GUCA2B Antikörper).
Mutant GCAP1, when under normal expression control, causes both rod and cone photoreceptors to lose function and degenerate, with cone cells being more severely affected, in keeping with the human disease phenotype.
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.
guanylate cyclase activator 1A (retina)
, GCAP 1
, cone dystrophy 3
, guanylate cyclase-activating protein, photoreceptor 1
, guanylin 1, retina
, guanylyl cyclase-activating protein 1