LCA5 Antibody
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货号:CSB-PA769789LA01HU
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规格:¥440
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促销:
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图片:
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其他:
产品详情
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产品名称:Rabbit anti-Homo sapiens (Human) LCA5 Polyclonal antibody
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Uniprot No.:Q86VQ0
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基因名:LCA5
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别名:LCA5 antibody; C6orf152Lebercilin antibody; Leber congenital amaurosis 5 protein antibody
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宿主:Rabbit
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反应种属:Human, Mouse
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免疫原:Recombinant Human Lebercilin protein (101-400AA)
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免疫原种属:Homo sapiens (Human)
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标记方式:Non-conjugated
本页面中的产品,LCA5 Antibody (CSB-PA769789LA01HU),的标记方式是Non-conjugated。对于LCA5 Antibody,我们还提供其他标记。见下表:
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克隆类型:Polyclonal
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抗体亚型:IgG
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纯化方式:>95%, Protein G purified
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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:Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4 -
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 WB 1:1000-1:5000 -
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:Involved in intraflagellar protein (IFT) transport in photoreceptor cilia.
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基因功能参考文献:
- The s report novel biallelic LCA5 mutations, Ala212Pro and Tyr441Cys, as causing cone dystrophy. PMID: 27067258
- Identification of novel LCA5 mutations in patients with Leber congenital amaurosis and retinitis pigmentosa. PMID: 23946133
- This work reveals a higher frequency of LCA5 mutations in a Spanish Leber congenital amaurosis cohort than in other populations. PMID: 24144451
- A novel LCA5 mutation is present in a Pakistani family with Leber congenital amaurosis and cataracts. PMID: 21850168
- Macular coloboma-type LCA shows genetic heterogeneity and it is not possible to establish a phenotype-genotype correlation with LCA5 and macular coloboma. PMID: 16082399
- The LCA5 gene on chromosome 6q14 encodes the ciliary protein lebercilin associated with Leber congenital amaurosis type 5. PMID: 17546029
- Data report the identification of three novel LCA5 mutations (3/3 homozygous) in three families confirming the modest implication of this gene in this series (3/179; 1.7%). PMID: 18000884
- This is the second report of LCA5 mutations causing Leber congenital amaurosis. PMID: 18334959
- This result shows that mutation in LCA5 is likely to be a rare genetic cause in Koreans PMID: 19172513
- Leber congenital amaurosis 2 patients with LCA5 mutation had evidence of retained photoreceptors mainly in the central retina; retinal remodeling was present in pericentral regions PMID: 19503738
- OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin PMID: 19800048
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相关疾病:Leber congenital amaurosis 5 (LCA5)
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亚细胞定位:Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium.
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蛋白家族:LCA5 family
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组织特异性:Widely expressed.
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数据库链接:
HGNC: 31923
OMIM: 604537
KEGG: hsa:167691
STRING: 9606.ENSP00000358861
UniGene: Hs.21945
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