CLN6,神经细胞蜡样质脂褐质沉积病蛋白CLN6抗体

产品编号HZ-8017R
英文名称CLN6
中文名称神经细胞蜡样质脂褐质沉积病蛋白CLN6抗体
别 名Ceroid lipofuscinosis, neuronal 6, late infantile, variant; CLN6 protein; FLJ20561; Nclf; Protein CLN6; CLN6_HUMAN.
说 明 书0.1ml 0.2ml
研究领域细胞生物 神经生物学
抗体来源Rabbit
克隆类型Polyclonal
交叉反应Human, Mouse, Rat, Pig, Cow, Horse, Rabbit, Sheep,
CLN6,神经细胞蜡样质脂褐质沉积病蛋白CLN6抗体产品应用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.
分 子 量36kDa
细胞定位细胞浆 细胞膜
性 状Lyophilized or Liquid
浓 度1mg/1ml
免 疫 原KLH conjugated synthetic peptide derived from human CLN6
亚 型IgG
纯化方法affinity purified by Protein A
储 存 液0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件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.
CLN6,神经细胞蜡样质脂褐质沉积病蛋白CLN6抗体PubMedPubMed
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.

CLN6,神经细胞蜡样质脂褐质沉积病蛋白CLN6抗体DISEASE:
Defects in CLN6 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 adult-onset 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. 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.