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DISC1 (CT) Rabbit pAb (bs-0430R)  
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產品編號 bs-0430R
英文名稱 DISC1 (CT) Rabbit pAb
中文名稱 DISC1 C端抗體
別    名 disrupted in schizophrenia1; C1orf136; KIAA0457; RP4-730B13.1; SCZD9; DISC1; DISC1_HUMAN.  
研究領域 細胞生物  神經生物學  Alzheimer's  
抗體來源 Rabbit
克隆類型 Polyclonal
克 隆 號
交叉反應 Human
產品應用 IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 92 kDa
檢測分子量
細胞定位 細胞漿 細胞膜 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human DISC1: 761-832/854 
亞    型 IgG
純化方法 affinity purified by Protein A
緩 沖 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存條件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事項 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
產品介紹 This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008].

Function:
Involved in the regulation of multiple aspects of embryonic and adult neurogenesis. Required for neural progenitor proliferation in the ventrical/subventrical zone during embryonic brain development and in the adult dentate gyrus of the hippocampus. Participates in the Wnt-mediated neural progenitor proliferation as a positive regulator by modulating GSK3B activity and CTNNB1 abundance. Plays a role as a modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including neuron positioning, dendritic development and synapse formation. Inhibits the activation of AKT-mTOR signaling upon interaction with CCDC88A. Regulates the migration of early-born granule cell precursors toward the dentate gyrus during the hippocampal development. Plays a role, together with PCNT, in the microtubule network formation.

Subunit:
Interacts with NDEL1. Interacts with CCDC88A (via C-terminus); the interaction is direct. Interacts with GSK3B. Interacts with tubulin alpha, ACTN2, ANKHD1, ATF4, ATF5, CEP63, EIF3S3, MAP1A, NDEL1, PAFAH1B1, RANBP9, SPTBN4, SYNE1 and TRAF3IP1. Interaction with microtubules may be mediated in part by TRAF3IP1. Interacts (via C-terminal) with PCNT. Interacts with CHCHD6.

Subcellular Location:
Cytoplasm. Cytoplasm, cytoskeleton. ytoplasm, cytoskeleton, centrosome. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Note=Colocalizes with NDEL1 in the perinuclear region and the centrosome. Localizes to punctate cytoplasmic foci which overlap in part with mitochondria. Colocalizes with PCNT at the centrosome.

Tissue Specificity:
Ubiquitous. Highly expressed in the dentate gyrus of the hippocampus. Also expressed in the temporal and parahippocampal cortices and cells of the white matter.

DISEASE:
Note=A chromosomal aberration involving DISC1 segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Translocation t(1;11)(q42.1;q14.3). The truncated DISC1 protein produced by this translocation is unable to interact with ATF4, ATF5 and NDEL1.
Schizophrenia 9 (SCZD9) [MIM:604906]: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

SWISS:
Q9NRI5

Gene ID:
27185

Database links:

Entrez Gene: 27185 Human

Omim: 605210 Human

SwissProt: Q9NRI5 Human

Unigene: 13318 Human

 



DISC1基因是蛋白質復合體中的一部分,它對大腦皮層發育過程中細胞的正常運動很重要。
DISC-1基因的變異增加了患精神分裂癥的風險。研究人員發現,抑制老鼠的DISC1活性則改變了動物大腦的發育,引起了大腦皮層輕微的變異,而在對精神分裂癥病人進行尸檢時在其大腦中見到了此變化。研究人員還發現將DISC1與對大腦發育和調節神經傳遞素水平很重要的分子信號路徑聯系起來,精神病患者的神經傳遞素水平往往是不正常的。
新研究顯示DISC1蛋白質與一個叫PDE4B的酶相互作用,而影響信號傳遞分子cAMP的活性。這個信號傳遞系統過去在其它試驗系統中被發現與學習、記憶、以及情緒有關,這與該系統中的變化可能促成精神分裂癥是一致的。
產品圖片
Paraformaldehyde-fixed, paraffin embedded (human liver carcinoma); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (DISC1 (CT)) Polyclonal Antibody, Unconjugated (bs-0430R) at 1:400 overnight at 4°C, followed by a conjugated secondary (sp-0023) for 20 minutes and DAB staining.
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