LCA5 Antibody, FITC conjugated

說明書

中文名稱：

LCA5兔多克隆抗體, FITC偶聯(lián)
貨號(hào)：

CSB-PA769789LC01HU
規(guī)格：

￥880
其他：

產(chǎn)品詳情
產(chǎn)品評(píng)價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

產(chǎn)品名稱：

Rabbit anti-Homo sapiens (Human) LCA5 Polyclonal antibody
Uniprot No.：

Q86VQ0
基因名：

LCA5
別名：

LCA5 antibody; C6orf152Lebercilin antibody; Leber congenital amaurosis 5 protein antibody
宿主：

Rabbit
反應(yīng)種屬：

Human
免疫原：

Recombinant Human Lebercilin protein (101-400AA)
免疫原種屬：

Homo sapiens (Human)
標(biāo)記方式：

FITC
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
產(chǎn)品提供形式：

Liquid
儲(chǔ)存條件：

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.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

功能：

Involved in intraflagellar protein (IFT) transport in photoreceptor cilia.
基因功能參考文獻(xiàn)：
1. The authors report novel biallelic LCA5 mutations, Ala212Pro and Tyr441Cys, as causing cone dystrophy. PMID: 27067258
2. Identification of novel LCA5 mutations in patients with Leber congenital amaurosis and retinitis pigmentosa. PMID: 23946133
3. This work reveals a higher frequency of LCA5 mutations in a Spanish Leber congenital amaurosis cohort than in other populations. PMID: 24144451
4. A novel LCA5 mutation is present in a Pakistani family with Leber congenital amaurosis and cataracts. PMID: 21850168
5. 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
6. The LCA5 gene on chromosome 6q14 encodes the ciliary protein lebercilin associated with Leber congenital amaurosis type 5. PMID: 17546029
7. 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
8. This is the second report of LCA5 mutations causing Leber congenital amaurosis. PMID: 18334959
9. This result shows that mutation in LCA5 is likely to be a rare genetic cause in Koreans PMID: 19172513
10. 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
11. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin PMID: 19800048
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相關(guān)疾病：

Leber congenital amaurosis 5 (LCA5)
亞細(xì)胞定位：

Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium.
蛋白家族：

LCA5 family
組織特異性：

Widely expressed.
數(shù)據(jù)庫(kù)鏈接：

HGNC: 31923

OMIM: 604537

KEGG: hsa:167691

STRING: 9606.ENSP00000358861

UniGene: Hs.21945

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