神经细胞蜡样质脂褐质沉积病蛋白CLN6抗体
规格：1mg/1ml
英文名： CLN6
别名： Ceroid lipofuscinosis, neuronal 6, late infantile, variant; CLN6 protein; FLJ20561; Nclf; Protein CLN6; CLN6_HUMAN.
分子量： 36kDa
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 CLN6
交叉反应：Human, Mouse, Rat, Pig, Cow, Horse, Rabbit, Sheep,
细胞定位：细胞浆 细胞膜
神经细胞蜡样质脂褐质沉积病蛋白CLN6抗体产品介绍：background: CLN6, a 311 amino acid protein, has seven predicted transmembrane domains and is conserved across vertebrates. The CLN6 protein localizes to the endoplasmic reticulum but contributes to lysosomal function. Mutations in the CLN6 gene cause variant late-onset infantile neuronal ceroid lipofuscinosis (vLINCL), a lysosomal storage disorder marked by progressive mental deterioration and blindness; part of a group of severe inherited neurodegenerative disorders affecting children wherein lysosomes accumulate storage material, causing the death of neurons. CLN6 is one of eight proteins, including CLN1-8, that are associated with NCL. Function: Defects in CLN6 are the cause of variant late onset infantile neuronal ceroid lipofuscinosis (vLINCL). Subunit: Endoplasmic reticulum membrane; Multi pass membrane protein. Subcellular Location: Endoplasmic reticulum membrane; Multi-pass membrane protein. DISEASE: Defects in CLN6 神经细胞蜡样质脂褐质沉积病蛋白CLN6抗体are the cause of neuronal ceroid lipofuscinosis type 6 (CLN6) [MIM:601780]. A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 6 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. Defects in CLN6 are the cause of neuronal ceroid lipofuscinosis type 4A (CLN4A) [MIM:204300]. An *****-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, 神经细胞蜡样质脂褐质沉积病蛋白CLN6抗体and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4A has no visual involvement and is characterized by progressive myoclonic epilepsy. Database links: UniProtKB/Swiss-Prot: Q9NWW5.1 Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
产神经细胞蜡样质脂褐质沉积病蛋白CLN6抗体品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=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
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid
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