USH1G Antibody, Biotin conjugated

說明書

中文名稱：

USH1G兔多克隆抗體, Biotin偶聯
貨號：

CSB-PA676572LD01HU
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) USH1G Polyclonal antibody
Uniprot No.：

Q495M9
基因名：

USH1G
別名：

ANKS 4A antibody; ANKS4A antibody; FLJ33924 antibody; SANS antibody; Scaffold protein containing ankyrin repeats and SAM domain antibody; USH 1G antibody; USH1G antibody; USH1G_HUMAN antibody; Usher syndrome 1G (autosomal recessive) antibody; Usher syndrome type 1G protein antibody; Usher syndrome type-1G protein antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Usher syndrome type-1G protein (1-300AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

Biotin
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
應用范圍：

ELISA
Protocols：

ELISA Protocol
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：

Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.
基因功能參考文獻：
1. Protein-protein interaction assays and co-expression of complex partners reveal that pathogenic mutations in USH1G severely affect formation of the SANS/ush2a/whirlin complex. Translational read-through drug treatment, targeting the c.728C > A (p.S243X) nonsense mutation, restored SANS scaffold function. We conclude that USH1 and USH2 proteins function together in higher order protein complexes. PMID: 28137943
2. USH1G caused a non-syndromic hearing loss in a Dutch family. Compound heterozygous mutations in USH1G were found to segregate with the hearing loss, a missense (c.310A>G, p.Met104Val) and a frameshift mutation (c.780insGCAC, p.Tyr261Alafs*96). PMID: 25255398
3. In USH1G patients, mutations in SANS eliminate Magi2 binding and thereby deregulate endocytosis, lead to defective ciliary transport modules and ultimately disrupt photoreceptor cell function inducing retinal degeneration. PMID: 24608321
4. A novel p.S243X truncating mutation in USH1G that segregated with the disease phenotype has been identified in consanguineous Saudi Arabia siblings. PMID: 22876113
5. Pathogenic mutations in MYO7A, USH1C, and USH1G have been found in four consanguineous Israeli Arab families with Usher syndrome type 1. PMID: 22219650
6. A role of the SANS-myomegalin complex in microtubule-dependent inner segment cargo transport towards the ciliary base of photoreceptor cells. PMID: 21767579
7. crystal structure of MYO7A MyTH4-FERM domains in complex with the central domain (CEN) of Sans at 2.8 angstrom resolution; MyTH4-FERM/CEN complex structure provides mechanistic explanations for known deafness-causing mutations in MYO7A MyTH4-FERM PMID: 21311020
8. A frameshift mutation in SANS results in atypical Usher syndrome PMID: 21044053
9. Mutations in harmonin and Sans found in USH1 patients are shown to destabilize the complex formation of the two proteins PMID: 20142502
10. A novel D458V mutation in the USH1G PDZ binding motif causes atypical Usher syndrome. PMID: 16283141
11. USH1G has a minor involvement in Usher syndrome pathogenesis. Only eight different changes without a clear pathogenic effect have been detected. PMID: 17896313
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相關疾?。?/div>
Usher syndrome 1G (USH1G)
亞細胞定位：

Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein.
組織特異性：

Expressed in vestibule of the inner ear, eye and small intestine.
數據庫鏈接：

HGNC: 16356

OMIM: 276900

KEGG: hsa:124590

STRING: 9606.ENSP00000320076

UniGene: Hs.376688

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