CLN8,神经细胞蜡样质脂褐质沉积病蛋白CLN8抗体

产品编号HZ-11715R
英文名称CLN8
中文名称神经细胞蜡样质脂褐质沉积病蛋白CLN8抗体
别 名Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation); Cln8; CLN8_HUMAN; EPMR; Protein CLN8.
说 明 书0.1ml 0.2ml
研究领域肿瘤 细胞生物 神经生物学 信号转导
抗体来源Rabbit
克隆类型Polyclonal
交叉反应Human, Mouse, Rat, Dog, Pig, Horse, Rabbit,
CLN8,神经细胞蜡样质脂褐质沉积病蛋白CLN8抗体产品应用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.
分 子 量33kDa
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 CLN8 (201-286aa)
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.
CLN8,神经细胞蜡样质脂褐质沉积病蛋白CLN8抗体PubMedPubMed
产品介绍background:
CLN8, a 286 amino acid transmembrane protein, localizes mainly to the endoplasmic reticulum, but also partially to the ER-Golgi intermediate compartment (ERGIC). Mutations in the CLN8 gene cause neuronal ceroid lipofuscinosis 8 and progressive epilepsy with mental retardation (EPMR). Both disorders are forms of neuronal ceroid-lipofuscinose (NCL), a group of progressive neurodegenerative diseases found in children, characterized by failure of psychomotor development, impaired vision, seizures and premature death. The CLN8 protein is one of eight proteins in the CLN family, including CLN1-CLN7, which are associated with NCL.

Function:
Could play a role in cell proliferation during neuronal differentiation and in protection against cell death.

Subcellular Location:
Endoplasmic reticulum membrane. Endoplasmic reticulum-Golgi intermediate compartment membrane.

Post-translational modifications:
Does not seem to be N-glycosylated.

DISEASE:
Defects in CLN8 are the cause of neuronal ceroid lipofuscinosis type 8 (CLN8) [MIM:600143]. A form of neuronal ceroid lipofuscinosis with onset in childhood. 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 8 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.
Defects in CLN8 are the cause of neuronal ceroid lipofuscinosis type 8 Northern epilepsy variant (CLN8NE) [MIM:610003]. A form of neuronal ceroid lipofuscinosis clinically characterized by epilepsy that presents between 5 and 10 years of age with frequent tonic-clonic seizures followed by progressive mental retardation. Visual loss is not a prominent feature. Intracellular accumulation of autofluorescent material results in curvilinear and granular profiles on ultrastructural analysis.

Similarity:
Contains 1 TLC (TRAM/LAG1/CLN8) domain.

CLN8,神经细胞蜡样质脂褐质沉积病蛋白CLN8抗体Database links:
UniProtKB/Swiss-Prot: Q9UBY8.3

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

产品图片

Tissue/cell: Rat brain tissue; 4% Paraformaldehyde-fixed and paraffin-embedded;  Antigen retrieval: citrate buffer ( 0.01M, pH 6.0 ), Boiling bathing for 15min; Block endogenous peroxidase by 3% Hydrogen peroxide for 30min; Blocking buffer (normal goat serum,C-0005) at 37℃ for 20 min;  Incubation: Anti-CLN8 Polyclonal Antibody, Unconjugated(HZ-11715R) 1:500, overnight at 4°C, followed by conjugation to the secondary antibody(SP-0023) and DAB(C-0010) staining Tissue/cell: Rat uterus tissue; 4% Paraformaldehyde-fixed and paraffin-embedded;  Antigen retrieval: citrate buffer ( 0.01M, pH 6.0 ), Boiling bathing for 15min; Block endogenous peroxidase by 3% Hydrogen peroxide for 30min; Blocking buffer (normal goat serum,C-0005) at 37℃ for 20 min;  Incubation: Anti-CLN8 Polyclonal Antibody, Unconjugated(HZ-11715R) 1:500, overnight at 4°C, followed by conjugation to the secondary antibody(SP-0023) and DAB(C-0010) staining