FAM161A Antibody, Biotin conjugated

說明書

中文名稱：

FAM161A兔多克隆抗體, Biotin偶聯
貨號：

CSB-PA661553LD01HU
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) FAM161A Polyclonal antibody
Uniprot No.：

Q3B820
基因名：

FAM161A
別名：

F161A_HUMAN antibody; Fam161a antibody; Family with sequence similarity 161; member A antibody; FLJ13305 antibody; Hypothetical protein LOC84140 antibody; MGC129982 antibody; MGC129983 antibody; OTTHUMP00000201353 antibody; Protein FAM161A antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Protein FAM161A 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：

Involved in ciliogenesis.
基因功能參考文獻：
1. novel homozygous frameshift mutations of RP28-linked RP gene FAM161A in Indian population. PMID: 26246154
2. Exome analysis revealed a nonsense homozygous mutation in FAM161A segregating with retinal degeneration with severe vision loss and a range of disease onset and progression. PMID: 25007332
3. We screened a panel of 120 probands with recessive Retinitis Pigmentosa, and two were found to harbour biallelic FAM161A variants. PMID: 26113502
4. founder mutation in FAM161A p.(Arg437*) underlies approximately 2% of arRP cases in the Dutch and Belgian populations. PMID: 26574802
5. FAM161A's activities are probably not limited to ciliary tasks but also extend to more general cellular functions, highlighting possible novel mechanisms for the molecular pathology of retinal disease. PMID: 25749990
6. Our data indicate that mutations in FAM161A are responsible for 1% of recessive RP cases in North America, similar to the prevalence detected in Germany and unlike the data from Israel and the Palestinian territories. PMID: 24651477
7. Yeast two-hybrid screening of a human retinal cDNA library revealed FAM161A as a binary interaction partner of POC1B. PMID: 25018096
8. an RP28 (an autosomal recessive form of retinitis pigmentosa)-linked RP family in the Palestinian population caused by a novel nonsense mutation in FAM161A, was identified. PMID: 24520187
9. FAM161A is a novel centrosomal-ciliary protein that likely is implicated in the regulation of microtubule-based cellular processes in the retina. PMID: 24664697
10. FAM161A-associated RP can be considered as a novel retinal ciliopathy and that its molecular pathogenesis may be related to other ciliopathies. PMID: 22940612
11. FAM161A is a microtubule-associated ciliary protein presumably involved in microtubule stabilization to maintain the microtubule tracks and/or in transport processes along microtubules in photoreceptors and other retinal cell types. PMID: 22791751
12. Null mutations in FAM161A are responsible for the RP28-associated autosomal-recessive retinitis pigmentosa. PMID: 20705278
13. These data suggest a pivotal role for FAM161A in photoreceptors and reveal that FAM161A loss-of-function mutations are a major cause of autosomal-recessive Retinitis pigmentosa. PMID: 20705279
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相關疾病：

Retinitis pigmentosa 28 (RP28)
亞細胞定位：

Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium. Note=Localized to the region between the outer and inner photoreceptor segments, corresponding to the photoreceptor connecting cilium.
蛋白家族：

FAM161 family
組織特異性：

Isoform 1 and isoform 3 are widely expressed with highest levels in retina and testis, with isoform 1 being the most abundant in all tissues tested.
數據庫鏈接：

HGNC: 25808

OMIM: 606068

KEGG: hsa:84140

UniGene: Hs.440466

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