GUCY2D Antibody
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中文名稱：GUCY2D兔多克隆抗體
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貨號：CSB-PA010054GA01HU
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規(guī)格：￥3,900
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其他：
產(chǎn)品詳情
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Uniprot No.：
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基因名：
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別名：GUCY2D antibody; CORD6 antibody; GUC1A4 antibody; GUC2D antibody; RETGC antibody; RETGC1 antibody; Retinal guanylyl cyclase 1 antibody; RETGC-1 antibody; EC 4.6.1.2 antibody; CG-E antibody; Guanylate cyclase 2D antibody; retinal antibody; Rod outer segment membrane guanylate cyclase antibody; ROS-GC antibody
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宿主：Rabbit
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反應(yīng)種屬：Human,Mouse,Rat
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免疫原：Human GUCY2D
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免疫原種屬：Homo sapiens (Human)
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抗體亞型：IgG
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純化方式：Antigen Affinity purified
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濃度：It differs from different batches. Please contact us to confirm it.
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保存緩沖液：PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
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產(chǎn)品提供形式：Liquid
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應(yīng)用范圍：ELISA,WB
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Protocols：
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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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.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產(chǎn)品評價
相關(guān)產(chǎn)品
靶點(diǎn)詳情
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功能：Catalyzes the synthesis of cyclic GMP (cGMP) in rods and cones of photoreceptors. Plays an essential role in phototransduction, by mediating cGMP replenishment. May also participate in the trafficking of membrane-asociated proteins to the photoreceptor outer segment membrane.
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基因功能參考文獻(xiàn)：
- As other genotypes were identified, there were attempts to divide the genotypes by phenotype: GUCY2D-LCA was considered a cone-rod dystrophy, whereas other genotypes were designated as rod-cone dystrophies PMID: 28212877
- Sequencing of GUCY2D identified a novel missense mutation (c.2129C:T; p.Ala710Val) resulting in substitution of alanine by valine at position 710 changes the conformation of the regulatory segment within the kinase styk-domain of GC1 and causes loss of its helical structure, likely inhibiting phosphorylation of threonine residue within this segment, which is needed to activate the catalytic domain of the protein. PMID: 27475985
- These results identify dissociable effects of blindness upon the visual pathway. Further, the relatively intact postgeniculate white matter pathway in GUCY2D-LCA is encouraging for the prospect of recovery of visual function with gene augmentation therapy. PMID: 28403437
- Two novel mutations causing phenotypic LCA and Alstrom syndrome in Saudi patients from consanguineous families expand the genotypic spectrum of congenital retinal dystrophies. PMID: 26957854
- Data suggest that GCAP1 (guanylate cyclase activator 1A; Mg2+ vs. Ca2+) exhibits conformational changes in Ca2+ switch helix that are important in activation of RetGC1; myristoylation of GCAP1 is important as well in attaining activator conformation. PMID: 26703466
- Gc1s/Gc1s phenotype variant of DBP and the unbound fraction of plasma RBP4 may be considered as factors related with the incidence, and possibly the risk, of IR in CHC patients. PMID: 26962819
- Guanylate cyclase signaling pathway is down regulated in the pathogenesis of inflammatory bowel diseases. PMID: 25979109
- Studies indicate that mutations in retinal guanylate cylase-1 (GUCY2D) are associated with a leading cause of recessive Leber congenital amaurosis (LCA1). PMID: 26427419
- The GUCY2D mutations were frequent in Chinese families with autosomal dominant cone or cone-rod dystrophies. All mutations were found in exon 13. PMID: 26298565
- Cardiac fibrosis and the endogenous natriuretic peptide system were evaluated in end-stage heart failure to assess the anti-fibrotic actions of the dual GC-A/-B activator. PMID: 25117468
- A deletion mutation in the GUCY2D gene is associated with Leber congenital amaurosis in a consanguineous Pakistani family. PMID: 25189253
- GUCY2D is a major cause of autosomal dominant cone and cone-rod dystrophies in Israel PMID: 25515582
- Neurodevelopmental delay is a potential feature of strictly defined LCA, documented in our series for some children with homozygous RPGRIP1 and GUCY2D mutations. PMID: 24997176
- Screening of the GUCY2D gene revealed the mutation p.R838H in all the affected individuals with autosomal dominant cone dystrophy and was absent in the asymptomatic patients. PMID: 24480840
- A missense mutation in the GUCY2D gene caused ADCRD in this family. Clinical follow-up of this family with a typical CRD phenotype revealed disease progression during the time period. PMID: 23686677
- Data suggest that dimerization domain of GUCY2D operates as a calcium-sensitive regulatory module; GUCY2D requires correct conformation of monomer-monomer interface for interaction with guanylate cyclase activating proteins (GCAP1; GCAP2). PMID: 23815670
- A novel missense mutation of the GUCY2D gene was identified in this study. PMID: 23734073
- postulate a relationship between the level of RetGC1 activity and the degree of cone vision abnormality, and argue for cone function being the efficacy outcome in clinical trials of gene augmentation therapy in LCA1 PMID: 23035049
- Expression of mutant human RETGC-1 leads to a retinal phenotype that includes aberrant photoreceptor morphology and a reduced number of photoreceptors. PMID: 23328348
- This is the first report of a GUCY2D mutation causing central areolar choroidal dystrophy and adds to our understanding of genotype-phenotype correlation in this heterogeneous group of choroidoretinal dystrophies. PMID: 22695961
- A recurrent heterozygous (p.Arg838His) mutation in GUCY2D is associated with autosomal dominant cone dystrophy in a Chinese family. PMID: 22194653
- Following subretinal delivery of a vector containing GUCY2D in Gucy2e(-/-) mice, GC1 protein was detected in the rod and cone outer segments, transducin was appropriately localized to cone outer segments, and an improvement in visual behavior. PMID: 21671801
- Two macular dystrophy-associated disease mutations at codon 838 of the GUCY2D gene were found among the 22 unrelated Spanish families, one of which had not been previously described (p.R838P). This novel mutation exhibited phenotypic variability. PMID: 21552474
- This study hence establishes GUCY2D, which is a common cause for both recessive Leber's congenital amaurosis and dominant cone-rod dystrophy, as a good candidate for autosomal recessive cone-rod dystrophy. PMID: 20517349
- Variations of macular microstructures were observed among LCA (Leber congenital amaurosis) patients with different genotypes. PMID: 19959640
- Studies show that a fold recognition based model of the catalytic domain of ROS-GC1 was built, and neurocalcin delta docking simulations were carried out to define the three-dimensional features of the interacting domains of the two molecules. PMID: 18500817
- The coexpression of ROS-GC1 and its activators in spermatozoa suggests that the Ca(2+)-modulated ROS-GC1 transduction system may be a part of the fertilization machinery PMID: 19111294
- clustering and frequency of mutations in patients with dominant cone-rod dystrophies PMID: 11565546
- Some carrier parents of patients with Leber congenital amaurosis and a GUCY2D mutation develop measurable cone and possibly rod abnormalities most consistent with a mild cone-rod dysfunction. PMID: 12365911
- Two amino acid substitution missense mutations at R838C and R838H have been identified as well as 11 new polymorphic markers. PMID: 12552567
- Leber congenital amaurosis (LCA) caused by mutant GUCY2D had only light perception but retained substantial numbers of cones and rods in the macula and far periphery. PMID: 12623820
- A heterozygous complex mutation of I915T and G917R in the GUCY2D gene caused autosomal dominant CORD (cone-rod dystrophy) PMID: 15111605
- LCA (leber congenital amaurosis) is caused by the modifying effect of a heterozygous GUCY2D mutation observed against the disease background of a homozygous RPE65 mutation. PMID: 15512997
- AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 mutations may have roles in juvenile retinitis pigmentosa PMID: 16272259
- Microarray-based mutation detection allowed the identification of 32% of LCA sequence variants and represents an efficient first-pass screening tool. Mutations in CRB1, and to a lesser extent, in GUCY2D, underlie most LCA cases in this cohort PMID: 16505055
- There is a phenotype-genotype correlation of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1 PMID: 17041576
- Testing confirms the diagnosis at the molecular level and allows for a more precise prognosis of the possible future clinical evolution PMID: 17651254
- illustrate the use of haplotype information about allele-sharing decay around a mutation as a genetic clock, using data for two GUCY2D mutations in Mediterranean populations PMID: 17684531
- RPE65 gene mutations represented a significant cause of LCA in the Italian population, whereas GUCY2D and CEP290 mutations had a lower frequency than that found in other reports. PMID: 17724218
- a novel mutation, P575L, was found in exon 8 of the GUCY2D gene in 12 members of a family with autosomal dominant progressive cone degeneration PMID: 18332321
- GUCY2D is a major gene responsible for progressive autosomal dominant cone degeneration. All identified mutations localize to codon 838. PMID: 18487367
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相關(guān)疾病：Leber congenital amaurosis 1 (LCA1); Cone-rod dystrophy 6 (CORD6)
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亞細(xì)胞定位：Photoreceptor outer segment membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein.
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蛋白家族：Adenylyl cyclase class-4/guanylyl cyclase family
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組織特異性：Retina.
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