ARL6 Antibody

說明書

中文名稱：

ARL6兔多克隆抗體
貨號：

CSB-PA887945ESR1HU
規格：

￥440
圖片：
Immunohistochemistry of paraffin-embedded human glioma using CSB-PA887945ESR1HU at dilution of 1:100
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) ARL6 Polyclonal antibody
Uniprot No.：

Q9H0F7
基因名：

ARL6
別名：

ADP ribosylation factor like 6 antibody; ADP ribosylation factor like protein 6 antibody; ADP-ribosylation factor-like protein 6 antibody; Arl6 antibody; ARL6_HUMAN antibody; Bardet Biedl syndrome 3 protein antibody; Bardet-Biedl syndrome 3 protein antibody; BBS3 antibody; MGC32934 antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human ADP-ribosylation factor-like protein 6 protein (1-186AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

Non-conjugated
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

Antigen Affinity Purified
濃度：

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

PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
產品提供形式：

Liquid
應用范圍：

ELISA, IHC

推薦稀釋比：

Application	Recommended Dilution
IHC	1:20-1:200

Protocols：

ELISA Protocol
Immunohistochemistry (IHC) 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 membrane protein trafficking at the base of the ciliary organelle. Mediates recruitment onto plasma membrane of the BBSome complex which would constitute a coat complex required for sorting of specific membrane proteins to the primary cilia. Together with BBS1, is necessary for correct trafficking of PKD1 to primary cilia. Together with the BBSome complex and LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. May regulate cilia assembly and disassembly and subsequent ciliary signaling events such as the Wnt signaling cascade. Isoform 2 may be required for proper retinal function and organization.
基因功能參考文獻：
1. Mutations of the ARL6 gene cause Bardet-Biedl syndrome, a heterogeneous disorder that increases the risk of Hypertension and Diabetes mellitus. PMID: 27271309
2. Elevated levels of serum ARL6 were able to discriminate between excessive alcohol users and controls. PMID: 25704570
3. Results show that BBS1 and BBS3 regulates the ciliary traficking of PC1. PMID: 24939912
4. The BBSome is a coat-like ciliary trafficking complex composed of proteins mutated in Bardet-Biedl syndrome. ARL6 E108A mutation prevents BBSome recruitment to cilia. PMID: 25402481
5. Arl6 is indispensable in cilia signaling but dispensable in ciliogenesis (Review). PMID: 23548655
6. BBS3 A89V is sufficient to rescue the transport delays induced by the loss of BBS3 but was unable to rescue vision impairment PMID: 21282186
7. Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling. PMID: 20207729
8. the first null mutation reported in BBS3 gene in patient with Bardet-Biedl syndrome PMID: 20142850
9. These data demonstrate that the BBS3L transcript is required for proper retinal function and organization. PMID: 20333246
10. We uncovered four different homozygous substitutions in ARL6 in four unrelated families affected with Bardet-Biedl syndrome, two of which disrupt a threonine residue important for GTP binding and function of several related small GTP-binding proteins. PMID: 15314642
11. These findings implicate that Arl6 mutants are destabilized and eliminated by the proteasome in cells, probably due to the altered nucleotide-binding properties. PMID: 19236846
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相關疾?。?/div>
Bardet-Biedl syndrome 3 (BBS3); Retinitis pigmentosa 55 (RP55)
亞細胞定位：

Cell projection, cilium membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body. Note=Appears in a pattern of punctae flanking the microtubule axoneme that likely correspond to small membrane-associated patches. Localizes to the so-called ciliary gate where vesicles carrying ciliary cargo fuse with the membrane.
蛋白家族：

Small GTPase superfamily, Arf family
數據庫鏈接：

HGNC: 13210

OMIM: 600151

KEGG: hsa:84100

STRING: 9606.ENSP00000337722

UniGene: Hs.373801

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