Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期:
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Stimulates retinal guanylyl cyclase when free calcium ions concentration is low and inhibits guanylyl cyclase when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of retinal guanylyl cyclase is a key event in recovery of the dark state of rod photoreceptors following light exposure. May be involved in cone photoreceptor light response and recovery of response in bright light.
基因功能參考文獻:
GCAP1 and GCAP2 bound to different regions on the target guanylate cyclase type 1 with submicromolar affinity (apparent KD-values of 663 +/- 121 nM and 231 +/- 63 nM for Ca(2+)-free GCAP1 and GCAP2, respectively). PMID: 28361875
Allosteric communication pathways routed by Ca(2+)/Mg(2+) exchange in GCAP1 selectively switch target regulation modes. PMID: 27739433
GUCA1A mutations could cause significant variability in maculopathies, including central areolar choroidal dystrophy, which represents a severe pattern of maculopathy. PMID: 28125083
The two novel mutations described in this study are associated with distinct phenotypes, macular dystrophy for p.Val101del and cone dystrophy for p.Asp148Glu, with no intrafamilial phenotypic heterogeneity. PMID: 28442884
GCAP1 mutation is associated with macular dystrophy. PMID: 28025326
Retinal dystrophy-associated missense mutations (L84F, I107T) in GUCA1A with distinct molecular properties result in a similar aberrant regulation of the retinal guanylate cyclase. PMID: 26358777
Dimerization domain of RETGC1 is an essential part of GCAP1 and GCAP2 binding interface. PMID: 26100624
The GCAP1 and GCAP2 binding site(s) overlaps within the kinase homology and/or dimerization domains of retinal GC1. PMID: 25616661
GUCA1A and GUCY2D 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. PMID: 24875811
RetGC1 activation by GCAP1 involves establishing a tight complex through the binding patch with an additional activation step involving Met-26, Lys-85, and Trp-94. PMID: 24567338
All four mutant GCAP1 family members showed sensitivity or acuity losses relative to normal observers. PMID: 24557353
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 PMID: 24024198
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. PMID: 24352742
the GUCA1A mutation only contributes to a small portion of CORD in people of Chinese descent. PMID: 23428504
Stimulation by GCAP increases the maximal velocity (Vmax) for retinal guanylyl cyclase activation up to 100-fold in HEK293 cell membranes. PMID: 21928830
The consequences of specific mutations on GCAP1 structure and GC stimulation, are described. PMID: 20238026
role in rescuing cone recovery kinetics in knockout mice PMID: 12732716
The dynamic range for recombinant photoreceptor guanylyl cyclase-1 regulation by calcium (Ca2+)/GCAP1 is determined by both the affinity of GCAP1 for Ca2+ and relative affinities of the effector enzyme for the Ca2+-free versus Ca2+-loaded GCAP1. PMID: 15504042
A novel GCAP1 mutation, I143NT, caused a form of autosomal dominant cone degeneration that destroys foveal cones by mid-life but spares some cones in the peripheral retina up to 75 years. PMID: 15505030
A novel L151F missense mutation in the EF4 high affinity Ca2+ binding site of GCAP1 is linked to adCD (autosomal dominant cone dystrophy) in a large pedigree. PMID: 15735604
A novel L151F mutation in the EF4 hand domain of GCAP1 is associated with autosomal dominant cone-rod dystrophy (adCORD). PMID: 15790869
This is the first report of this mutation also causing both cone-rod dystrophy and isolated macular dysfunction. PMID: 15953638
metal binding in EF-hand 2 is crucial for GCAP1 attachment to RetGC1, and in EF-hand 3 it is less critical, although it enhances the efficiency of the GCAP1 docking on the target enzyme PMID: 18541533
all novel mutants of GCAP1 were able to act as a Ca2+-sensor protein, they differed in their Ca2+-dependent activation profiles leading to a persistent stimulation of guanylate cyclase activities at physiological intracellular Ca2+ concentration PMID: 19459154