Cln8 Gene Ceroid Lipofuscinosis, Neuronal 8 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
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| Attribute | Value |
|---|---|
| Gene Symbol | CLN8 |
| Gene Name | Ceroid Lipofuscinosis, Neuronal 8 |
| Official Full Name | CLN8, ER Storage Membrane Protein |
| Chromosomal Location | 8p23.2 |
| GRCh38 Coordinates | chr8:1,723,247-1,755,442 |
| NCBI Gene ID | 2055 |
| OMIM ID | 607897 |
| Ensembl ID | ENSG00000154164 |
| UniProt ID | Q9UHD2 |
| Gene Family | CLN8 family, ER membrane proteins |
The CLN8 gene encodes an endoplasmic reticulum (ER) membrane protein that plays a critical role in ER-to-lysosome trafficking and lipid metabolism. CLN8 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 (late infantile) and Northern Epilepsy (progressive epilepsy with dementia)[1].
CLN8 is a 286-amino acid transmembrane protein (32 kDa) localized to the ER membrane. It contains multiple transmembrane domains and cytosolic loops[2].
CLN8 interacts with:
CLN8 mutations cause classic late infantile NCL in Turkish families[1]:
| Feature | Onset | Progression |
|---|---|---|
| Seizures | 3-7 years | Myoclonic, generalized |
| Vision loss | 4-8 years | Progressive |
| Cognitive decline | 4-8 years | Progressive dementia |
| Motor dysfunction | 5-10 years | Ataxia, spasticity |
| Death | 10-20 years | Variable |
A specific CLN8 mutation (c.70C>G, p.R24G) causes Northern Epilepsy, found in Finnish families[3]:
| Feature | Onset | Progression |
|---|---|---|
| Seizures | 5-10 years | Progressive |
| Cognitive decline | 10-20 years | Progressive dementia |
| Motor dysfunction | 15-25 years | Ataxia |
| Vision loss | Variable | Less prominent |
| Death | 30-50 years | Variable |
| Mutation | Type | Effect | Disease |
|---|---|---|---|
| c.70C>G (p.R24G) | Missense | Partial function | Northern Epilepsy |
| c.301G>A (p.G101S) | Missense | Severe loss | Turkish variant |
| c.1165G>A (p.E389K) | Missense | Severe loss | Late infantile |
| c.1253A>G (p.Y418C) | Missense | Severe loss | Late infantile |
| c.451dupC | Frameshift | Null | Late infantile |
The study of Cln8 Gene Ceroid Lipofuscinosis, Neuronal 8 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.
Last updated: March 2026