Cln8 Protein is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
{{- -}} [1]
| Attribute | Value |
|---|---|
| Protein Name | CLN8 (ER Storage Membrane Protein) |
| Gene | CLN8 |
| UniProt ID | Q9UHD2 |
| PDB Structure | No structure available |
| Molecular Weight | 32 kDa |
| Subcellular Localization | Endoplasmic Reticulum membrane |
| Protein Family | CLN8 family |
CLN8 is an endoplasmic reticulum (ER) membrane protein that plays a critical role in ER-to-lysosome trafficking and lipid metabolism. It forms a functional complex with CLN6 to mediate the transport of lysosomal enzymes and other cargo. Mutations in CLN8 cause variant forms of neuronal ceroid lipofuscinosis (NCL), including the Turkish variant and Northern Epilepsy[1].
CLN8 is a 286-amino acid transmembrane protein:
CLN8 is involved in:
CLN8 interacts with:
CLN8 mutations cause classic late infantile NCL[1]:
Specific CLN8 mutation (p.R24G) causes Northern Epilepsy[2]:
CLN8 deficiency causes:
The study of Cln8 Protein has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
Hirvasniemi A, et al. "Northern epilepsy: a novel form of neuronal ceroid lipofuscinosis." Brain Pathol. Brain Pathol. 2006. ↩︎