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| Cat.No | ACP07380 | Target Name | CLN8 |
|---|---|---|---|
| Target Synonyms | CLN8; C8orf61; Protein CLN8 | Form | Lyophilized powder |
| Expression System | Custom Production. Please inquire and provide the desire expression system. | Protein Length | Partial |
| Purity | >85% (SDS-PAGE) | Storage Buffer | 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0. |
| Target Species | Human | Uniprot ID | Q9UBY8 |
|---|
Uniprot Id
Q9UBY8
Target Species
Human
Target Name
CLN8
Target Full Name
Protein CLN8
Target Function
Could play a role in cell proliferation during neuronal differentiation and in protection against cell death.
Target Involvement
Ceroid lipofuscinosis, neuronal, 8 (CLN8); Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8NE)
Target Subcellular Location
Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Multi-pass membrane protein. Endoplasmic reticulum.
Target Synonyms
CLN8; C8orf61; Protein CLN8
Target Background
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.
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