内核膜蛋白MAN1抗体
规格：1mg/1ml
英文名： MAN1
别名： Inner nuclear membrane protein Man1; LEM domain containing protein 3; LEM domain-containing protein 3; LEMD3; MAN1_HUMAN.
分子量： 100kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human MAN1
交叉反应：Human, Mouse, Rat, Rabbit,
细胞定位：细胞核
内核膜蛋白MAN1抗体产品介绍：background: 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 内核膜蛋白MAN1抗体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 内核膜蛋白MAN1抗体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. 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 Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
内核膜蛋白MAN1抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：肿瘤 细胞生物 发育生物学 信号转导 转录调节因子 表观遗传学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid