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Rabbit Anti-MLC1/BF350 Conjugated antibody (bs-7115R-BF350)
訂購(gòu)熱線:400-901-9800
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說(shuō) 明 書(shū): 100ul  
100ul/2980.00元
大包裝/詢價(jià)
產(chǎn)品編號(hào) bs-7115R-BF350
英文名稱1 Rabbit Anti-MLC1/BF350 Conjugated antibody
中文名稱 BF350標(biāo)記的膜蛋白MLC1抗體
別    名 KIAA0027; LVM; Megalencephalic leukoencephalopathy with subcortical cysts 1; Membrane protein MLC1; MLC; MLC-1; MLC1_HUMAN; VL; WKL1.  
規(guī)格價(jià)格 100ul/2980元 購(gòu)買(mǎi)        大包裝/詢價(jià)
說(shuō) 明 書(shū) 100ul  
研究領(lǐng)域 細(xì)胞生物  神經(jīng)生物學(xué)  信號(hào)轉(zhuǎn)導(dǎo)  通道蛋白  細(xì)胞膜蛋白  
抗體來(lái)源 Rabbit
克隆類型 Polyclonal
交叉反應(yīng) (predicted: Human, Mouse, Rat, Dog, Pig, Horse, Rabbit, )
產(chǎn)品應(yīng)用 ICC=1:50-200 IF=1:50-200 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 41kDa
性    狀 Lyophilized or Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human MLC1
亞    型 IgG
純化方法 affinity purified by Protein A
儲(chǔ) 存 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol
保存條件 Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
產(chǎn)品介紹 background:
MLC1 is a 377 amino acid multi-pass membrane protein that may serve as a non-selective neuronal cation channel in brain. Mutant MLC1 proteins that show impaired folding have been corrected in vitro with the addition of a Ca(2+)-ATPase inhibitor, curcumin. Mutations in the gene encoding MLC1 is the cause of megalencephalic leukoencephalopathy with subcortical cysts, also known as van der Knaap disease, a rare syndrome characterized early in life by progressive brain destruction causing mental retardation and incoordination. Single nucleotide polymorphisms within the MLC1 gene may be associated with periodic catatonia, but there seems to be conflicting evidence on whether or not the gene is implicated in general schizophrenia.

Function:
May be a transporter. May act as a non-selective neuronal cation channel.

Subunit:
Interacts with ATP1B1. Part of a complex containing ATP1B1, TRPV4, AQP4 and HEPACAM.

Subcellular Location:
Membrane; Multi-pass membrane protein (Potential). Cell membrane. Cytoplasm, perinuclear region. Endoplasmic reticulum.

Tissue Specificity:
Expressed in the brain, with highest levels found in the amygdala, nucleus caudatus, thalamus and hippocampus.

DISEASE:
Defects in MLC1 are a cause of leukoencephalopathy megalencephalic with subcortical cysts (MLC) [MIM:604004]. MLC is a syndrome of cerebral leukoencephalopathy and megalencephaly characterized by ataxia, spasticity, seizures, delay in motor development and mild mental retardation. The brain appears swollen on magnetic resonance imaging, with diffuse white-matter abnormalities and the invariable presence of subcortical cysts in frontal and temporal lobes.

Database links:
UniProtKB/Swiss-Prot: Q15049.5

Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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