PDE6C Antibody
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货号:CSB-PA755655
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规格:¥1100
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图片:
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其他:
产品详情
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Uniprot No.:P51160
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基因名:PDE6C
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别名:5''-cyclic phosphodiesterase subunit alpha'' antibody; cGMP phosphodiesterase 6C antibody; COD4 antibody; Cone cGMP specific 3' 5' cyclic phosphodiesterase subunit alpha' antibody; Cone cGMP-specific 3'' antibody; PDE 6C antibody; PDE6 alpha prime antibody; PDE6 alpha' antibody; PDE6C antibody; PDE6C_HUMAN antibody; PDEA2 antibody; Phosphodiesterase 6C cGMP specific cone alpha prime antibody
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宿主:Rabbit
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反应种属:Human
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免疫原:Synthetic peptide of Human PDE6C
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免疫原种属:Homo sapiens (Human)
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标记方式:Non-conjugated
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抗体亚型:IgG
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纯化方式:Antigen affinity purification
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浓度:It differs from different batches. Please contact us to confirm it.
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保存缓冲液:-20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
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产品提供形式:Liquid
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应用范围:ELISA,WB
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推荐稀释比:
Application Recommended Dilution ELISA 1:2000-1:5000 WB 1:500-1:2000 -
Protocols:
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储存条件:Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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货期: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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靶点详情
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功能:As cone-specific cGMP phosphodiesterase, it plays an essential role in light detection and cone phototransduction by rapidly decreasing intracellular levels of cGMP.
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基因功能参考文献:
- This study reveals two general mechanisms of missense PDE6C mutations underlying retinal diseases: (a) inability of AIPL1 to fold mutant PDE6C proteins leading to complete catalytic inactivity and (b) failure of P gamma regulatory subunit to serve as co-chaperone with AIPL1 in folding of mutant PDE6C. PMID: 28583373
- A novel homozygous PDE6C mutation was identified as the cause of ACHM. In addition, we identified an OPN1SW mutation in the sibling with complete achromatopsia. PMID: 25605338
- Expression of PDE6 in rod photoreceptors show that the cone PDE6 isoform is responsible for the difference in light adaptation between rods and cones. PMID: 26085644
- The majority (n = 12) of patients were either homozygotes or compound heterozygotes for known achromatopsia alleles, two in CNGB3 (p.T383fsX and p.T296YfsX9) and three in CNGA3 (p.R283Q, p.R427C and p.L527R). PMID: 23362848
- Missense mutations, nonsense mutations, splice mutations, and small deletions and insertions in the affected genes cause achromatopsia. PMID: 21267001
- Eleven different PDE6C mutations were found including two nonsense mutations, three mutations affecting transcript splicing as shown by minigene assays, one 1 bp-insertion and five missense mutations PMID: 21127010
- Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. PMID: 19615668
- analysis of human cone phosphodiesterase-6 ectopically expressed in Xenopus laevis rods PMID: 19801642
- the identification of mutations in the PDE6C gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase as a cause of autosomal recessive achromatopsia was reported. PMID: 19887631
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相关疾病:Cone dystrophy 4 (COD4); Achromatopsia 5 (ACHM5)
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亚细胞定位:Cell membrane; Lipid-anchor; Cytoplasmic side.
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蛋白家族:Cyclic nucleotide phosphodiesterase family
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数据库链接:
HGNC: 8787
OMIM: 600827
KEGG: hsa:5146
STRING: 9606.ENSP00000360502
UniGene: Hs.658121
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