IQCB1 Antibody, FITC conjugated

說明書

中文名稱：

IQCB1兔多克隆抗體, FITC偶聯
貨號：

CSB-PA621862LC01HU
規格：

￥880
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) IQCB1 Polyclonal antibody
Uniprot No.：

Q15051
基因名：

IQCB1
別名：

IQ calmodulin-binding motif containing 1 antibody; IQ calmodulin-binding motif-containing protein 1 antibody; IQ motif containing B1 antibody; Iqcb1 antibody; IQCB1_HUMAN antibody; KIAA0036 antibody; Nephrocystin-5 antibody; NPHP5 antibody; p53 and DNA damage-regulated IQ motif protein antibody; SLSN5 antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human IQ calmodulin-binding motif-containing protein 1 protein (445-598AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

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
產品提供形式：

Liquid
儲存條件：

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.

產品評價

靶點詳情

功能：

Involved in ciliogenesis. The function in an early step in cilia formation depends on its association with CEP290/NPHP6. Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2 and BBS5 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating CEP290/NPHP6.
基因功能參考文獻：
1. Study demonstrates the interaction between CNNM4 and IQCB1, which provides the first link between CNNM4 and IQCB1 that causes Leber congenital amaurosis and retinal dystrophy when mutated, providing important insights into the molecular pathogenic mechanisms of retinal dystrophy in Jalili syndrome. PMID: 29322253
2. that nephrocystin-5 is essential for photoreceptor outer segment formation PMID: 27328943
3. Dynamic ubiquitination and deubiquitination of NPHP5 plays a crucial role in the regulation of ciliogenesis. NPHP5 directly binds to a deubiquitinating enzyme USP9X/FAM and two E3 ubiquitin ligases BBS11/TRIM32 and MARCH7/axotrophin. PMID: 28498859
4. NPHP5-mutant dogs recapitulate the human phenotype of very early loss of rods, and relative retention of the central retinal cone photoreceptors that lack function. PMID: 27506978
5. NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery. PMID: 25552655
6. High-throughput mutation analysis identified a homozygous truncating mutation (c.1504C>T, p.R502*) in the NPHP5 in 5 families in Iranian children with nephronophthisis. PMID: 25851290
7. mutation is predicted to introduce a new open reading frame that results in the truncation of the C-terminal 235 amino acids of nephrocystin-5 and its consequent loss of function PMID: 24674142
8. NPHP5 mutations impair protein interaction with Cep290 and localize to centrosomes, thereby compromising cilia formation. PMID: 23446637
9. Genetic variation may affect severity of disease for X-linked retinitis pigmentosa. PMID: 22183348
10. Data show that the minor allele (N) of I393N in IQCB1 and the common allele (R) of R744Q in RPGRIP1L were associated with severe disease in XlRP with RPGR mutations. PMID: 21857984
11. Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. PMID: 21245082
12. Results show that the onset of renal failure in patients with IQCB1 mutations is highly variable, and that mutations are also found in Leber congenital amaurosis (LCA) patients without nephronophthisis, rendering IQCB1 a new gene for LCA. PMID: 20881296
13. Mutations in NPHP5 can cause Leber congenital amaurosis (LCA)without early-onset renal disease. PMID: 21220633
14. nephrocystin-5, RPGR and calmodulin can be coimmunoprecipitated from retinal extracts, and that these proteins localize to connecting cilia of photoreceptors and to primary cilia of renal epithelial cells PMID: 15723066
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相關疾病：

Senior-Loken syndrome 5 (SLSN5); Leber congenital amaurosis 10 (LCA10)
亞細胞定位：

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Localization to the centrosome depends on the interaction with CEP290/NPHP6.
組織特異性：

Ubiquitously expressed in fetal and adult tissues. Localized to the outer segments and connecting cilia of photoreceptor cells. Up-regulated in a number of primary colorectal and gastric tumors.
數據庫鏈接：

HGNC: 28949

OMIM: 609237

KEGG: hsa:9657

STRING: 9606.ENSP00000311505

UniGene: Hs.604110

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