ITN2471
ITN2471
- Catalog: ITN2471
- Gene/Protein: CLN8 C8orf61
- Product Description: Immunotag™ CLN8 Polyclonal Antibody
385.0000
Price in reward points: 385
| Antibody Specification | |
| Datasheet | 
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| Target Protein | CLN8 |
| Clonality | Polyclonal |
| Storage/Stability | -20°C/1 year |
| Application | WB,ELISA |
| Recommended Dilution | WB 1:500-2000 ELISA 1:5000-20000 |
| Concentration | 1 mg/ml |
| Reactive Species | Human |
| Host Species | Rabbit |
| Immunogen | Synthesized peptide derived from human protein, at AA range: 231-280 |
| Specificity | CLN8 Polyclonal Antibody detects endogenous levels of protein. |
| Purification | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen |
| Form | Liquid in PBS containing 50% glycerol, and 0.02% sodium azide. |
| Gene Name | CLN8 C8orf61 |
| Accession No. | Q9UBY8 Q9QUK3 Q6AYM9 |
| Description | ceroid-lipofuscinosis, neuronal 8(CLN8) Homo sapiens 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. [provided by RefSeq, Jul 2008], |
| Protein Expression | Placenta,Uterus, |
| Subcellular Localization | endoplasmic reticulum,endoplasmic reticulum membrane,endoplasmic reticulum-Golgi intermediate compartment,integral component of membrane,endoplasmic reticulum-Golgi intermediate compartment membrane, |
| Protein Function | disease:Defects in CLN8 are the cause of neuronal ceroid lipofuscinosis 8 (CLN8) [MIM:600143]. Childhood-onset neuronal ceroid lipofuscinoses (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.,disease:Defects in CLN8 are the cause of progressive epilepsy with mental retardation (EPMR) [MIM:610003]; also called Northern epilepsy variant of neuronal ceroid lipofuscinosis 8. EPMR is a form of NCL so far described only in Finland. It has been considered as a distinct clinical and genetic entity among the NCL.,online information:Neural Ceroid Lipofuscinoses mutation db,PTM:Does not seem to be N-glycosylated.,similarity:Contains 1 TLC (TRAM/LAG1/CLN8) domain., |
| Usage | For Research Use Only! Not for diagnostic or therapeutic procedures. |
| Material Safety Data Sheet | |
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