OPHN1 Antibody

說明書

中文名稱：

OPHN1兔多克隆抗體
貨號：

CSB-PA016348ESR1HU
規格：

￥440
圖片：
Immunohistochemistry of paraffin-embedded human colon cancer using CSB-PA016348ESR1HU at dilution of 1:100

Immunohistochemistry of paraffin-embedded human gastric cancer using CSB-PA016348ESR1HU 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) OPHN1 Polyclonal antibody
Uniprot No.：

O60890
基因名：

OPHN1
別名：

OPHN1 antibody; Oligophrenin-1 antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Oligophrenin-1 protein (1-270AA)
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：

Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the stabilization of AMPA receptors at postsynaptic sites. Critical for the regulation of synaptic vesicle endocytosis at presynaptic terminals. Required for the localization of NR1D1 to dendrites, can suppress its repressor activity and protect it from proteasomal degradation.
基因功能參考文獻：
1. Here, we report that chronic treatment in adult mouse with Fasudil, is able to counteract vertical and horizontal hyperactivities, restores recognition memory and limits the brain ventricular dilatation observed in Ophn1(-)(/y) However, deficits in working and spatial memories are partially or not rescued by the treatment PMID: 27146843
2. Furthermore, we found that olfactory behaviour was perturbed in OPHN1 ko mice. Chronic treatment with a Rho kinase inhibitor rescued most of the defects of the newly generated neurons. Altogether, our data indicated that OPHN1 plays a key role in regulating the number, morphology and function of adult-born inhibitory interneurons and contributed to identify potential therapeutic targets. PMID: 27742778
3. we reported on the first male patient carrying an OPHN1 mutation with IQ score within the normal limits. This observation expands the phenotypic spectrum of OPHN1 mutations. PMID: 27390894
4. A neuronal stem cell-based model for the treatment of OPHN1 syndrome and other neurological disorders due to ROCK dysfunction. PMID: 27160703
5. results suggest that oligophrenin-1 is involved in tumor progression in prostate cancer PMID: 25170626
6. This is the first description of an in-frame deletion within the BAR domain of OPHN1 and could provide new insights into the role of this domain in relation to brain and cognitive development or function. PMID: 24105372
7. Our results demonstrate that multiple post-transcriptional events occur on OPHN1, a gene playing an important role in brain function and development. PMID: 24637888
8. In response to GPVI stimulation, OPHN1 becomes phosphorylated at Tyr370 and plays a role in the formation of filopodia during platelet spreading on collagen. PMID: 23619296
9. This mutation determines the production of a mutant oligophrenin 1 protein with 16 extra amino acids inserted in-frame in the N-terminal BAR (Bin1/amphiphysin/Rvs167) domain. (oligophrenin 1 protein ) PMID: 21796728
10. Data suggest that OPHN1 defect may be an important contributory factor to XLMR. PMID: 20528889
11. The OPHN1 gene plays a role during the development of the human cerebellum. PMID: 12807966
12. Found in glial cells forming myelin sheaths in the vagus nerve, sciatic nerve and dorsal roots of guinea-pig, rat and human, in chromaffin cells of the adrenal medulla, and in chromaffin cells associated with sympathetic ganglia. PMID: 15026118
13. Oligophrenin 1 mutations were found in 12% (2/17) of individuals with mental retardatin and known cerebellar anomalies and in 1% (2/196) of the X-linked mental retardation group. PMID: 16221952
14. Disruption of the OPHN1 gene on Xq12 is associated with mental retardation and tall stature PMID: 17845870
15. oligophrenin 1 gene (OPHN1) is an Rho-GTPase-activating protein involved in the regulation of the G-protein cycle required for dendritic spine morphogenesis PMID: 18261018
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相關疾病：

Mental retardation, X-linked, syndromic, OPHN1-related (MRXSO)
亞細胞定位：

Cell junction, synapse, postsynapse. Cell junction, synapse, presynapse. Cell projection, axon. Cell projection, dendritic spine. Cell projection, dendrite. Cytoplasm.
組織特異性：

Expressed in brain.
數據庫鏈接：

HGNC: 8148

OMIM: 300127

KEGG: hsa:4983

STRING: 9606.ENSP00000347710

UniGene: Hs.128824

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