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 a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), 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.
| Pack Size | 100ul, 1ml, 20ul |
|---|---|
| Applications | ELISA, IHC-P, WB |
| Host Species | Rabbit |
| Ig Isotype | IgG |
| Antibody Type | Polyclonal Antibody |
| Organism Species | Human |
| Product Synonyms | CLN8 |
| Observed Mol Wt | 33kDa |
| Alternative Names | EPMR; TLCD6; C8orf61; CLN8 |
| Immunogen (Antigen) | synthetic peptide |
| Format | Liquid |
| Buffer Formulation | 50% glycerol, PBS with 0.01% thimerosal, pH7.3 |
| Reactivity | Human |
| Uniprot ID | 2055 |
| Gene ID | Q9UBY8 |
| Purification | Antigen-specific affinity chromatography followed by Protein A affinity chromatography |
| Usage | For Research Use Only. Not for diagnostics or human use. |
| Shelf Life | 12 months at time of shipping |
| Shipping | Shipped in Dry Ice at -20 Degree Celsius |
| Storage | Store at -20 Degree Celsius. It is recommended to aliquot and store to avoid repeated freeze-thaw as it affects the stability of the antibody. |
| Research Areas | Cancer, Cell Biology, Immunology, Neuroscience |
| KD/KO Validated | KD Validated |
| Disclaimer | The data indicated herein are as indicated and validated in our laboratory. These reagents are for research use only and not for in-vitro diagnostics or human use. |

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