膜蛋白MLC1抗体
规格：1mg/1ml
英文名： MLC1
别名： KIAA0027; LVM; Megalencephalic leukoencephalopathy with subcortical cysts 1; Membrane protein MLC1; MLC; MLC-1; MLC1_HUMAN; VL; WKL1.
分子量： 41kDa
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 MLC1
交叉反应：Human, Mouse, Rat, Dog, Pig, Horse, Rabbit,
膜蛋白MLC1抗体细胞定位：细胞浆 细胞膜
产品介绍：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 膜蛋白MLC1抗体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膜蛋白MLC1抗体 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.
膜蛋白MLC1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：细胞生物 神经生物学 信号转导 通道蛋白 细胞膜蛋白
储存条件：
来源： Rabbit
外观： Lyophilized or Liquid