半岛bd体育手机客户端 说明
免疫原
Synthetic peptide directed towards the N terminal region of human CLN8
生化/生理作用
CLN8 is a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. Childhood-onset NCL are a group of autosomal recessive progressive encephalopathies characterized by the accumulation of autofluorescent material, mainly ATP synthase subunit C, in various tissues, notably in neurons. Based on clinical features, the country of origin of patients, and the molecular genetic background of the disorder, at least seven different forms are thought to exist. CLN8 is characterized by normal early development, onset of generalized seizures between 5 and 10 years, and subsequent progressive mental retardation.This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with progressive epilepsy with mental retardation (EMPR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain.
序列
Synthetic peptide located within the following region: MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLN
外形
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
免责声明
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
基本信息
NACRES | NA.41 |
半岛bd体育手机客户端 性质
生物来源 | rabbit |
质量水平 | 100 |
偶联物 | unconjugated |
抗体形式 | affinity isolated antibody |
antibody product type | primary antibodies |
克隆 | polyclonal |
形式 | buffered aqueous solution |
分子量 | 33 kDa |
species reactivity | dog, human, horse |
浓度 | 0.5 mg - 1 mg/mL |
technique(s) | western blot: suitable |
UniProt登记号 | Q9UBY8 |
运输 | wet ice |
储存温度 | ?20℃ |
Gene Information | human ... CLN8(2055) |
安全信息
储存分类代码 | 12 - Non Combustible Liquids |
WGK | WGK 3 |
闪点(F) | Not applicable |
闪点(C) | Not applicable |
Sigma-Aldrich