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Rabbit Anti-MAN1  antibody (bs-18643R)  
~~~促銷代碼KT202411~~~
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產品編號 bs-18643R
英文名稱 Rabbit Anti-MAN1  antibody
中文名稱 內核膜蛋白MAN1抗體
別    名 Inner nuclear membrane protein Man1; LEM domain containing protein 3; LEM domain-containing protein 3; LEMD3; MAN1_HUMAN.  
研究領域 腫瘤  細胞生物  發(fā)育生物學  信號轉導  轉錄調節(jié)因子  表觀遺傳學  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應 (predicted: Human,Mouse,Rat,Rabbit)
產品應用 IHC-P=1:100-500,IHC-F=1:100-500,ICC/IF=1:100-500,IF=1:100-500,ELISA=1:5000-10000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 100kDa
細胞定位 細胞核 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human MAN1: 401-500、911 
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 locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009]

Function:
Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest.

Subcellular Location:
Nucleus inner membrane.

Tissue Specificity:
Heart, brain, placenta, lung, liver and skeletal muscle.

DISEASE:
Defects in LEMD3 are the cause of Buschke-Ollendorff syndrome (BOS) [MIM:166700]; also known as dermatoosteopoikilosis or disseminated dermatofibrosis with osteopoikilosis or dermatofibrosis lenticularis disseminata with osteopoikilosis or osteopathia condensans disseminata. BOS refers to the association of osteopoikilosis with disseminated connective-tissue nevi. Osteopoikilosis is a skeletal dysplasia characterized by a symmetric but unequal distribution of multiple hyperostotic areas in different parts of the skeleton. Both elastic-type nevi (juvenile elastoma) and collagen-type nevi (dermatofibrosis lenticularis disseminata) have been described in BOS. Skin or bony lesions can be absent in some family members, whereas other relatives may have both.
Defects in LEMD3 are a cause of melorheostosis (MEL) [MIM:155950].
Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur.

Similarity:
Contains 1 LEM domain.

SWISS:
Q9Y2U8

Gene ID:
23592

Database links:

Entrez Gene: 23592 Human

Entrez Gene: 380664 Mouse

Omim: 607844 Human

SwissProt: Q9Y2U8 Human

SwissProt: Q9WU40 Mouse

Unigene: 728281 Human

Unigene: 339371 Mouse



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