Cln6 Gene Ceroid Lipofuscinosis, Neuronal 6 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 | CLN6 |
| Gene Name | Ceroid Lipofuscinosis, Neuronal 6 |
| Official Full Name | CLN6, Endoplasmic Reticulum Lysosomal Trafficking Protein |
| Chromosomal Location | 15q23 |
| GRCh38 Coordinates | chr15:68,519,153-68,537,792 |
| NCBI Gene ID | 2569 |
| OMIM ID | 606725 |
| Ensembl ID | ENSG00000154553 |
| UniProt ID | Q9NWW3 |
| Gene Family | CLN6 family, ER membrane proteins |
The CLN6 gene encodes an endoplasmic reticulum (ER) membrane protein that is essential for lysosomal function and autophagy. CLN6 forms a complex with CLN8 and other proteins to mediate ER-to-lysosome trafficking. Mutations in CLN6 cause variant forms of neuronal ceroid lipofuscinosis (NCL), including late infantile and adult-onset forms[1].
CLN6 is a 311-amino acid transmembrane protein (34 kDa) residing in the ER membrane. It contains multiple transmembrane domains and cytosolic N- and C-termini[2].
CLN6 interacts with:
CLN6 mutations cause NCL with variable phenotypes[1]:
| Feature | Onset | Progression |
|---|---|---|
| Vision loss | 3-8 years | Progressive retinal degeneration |
| Seizures | 3-8 years | Myoclonic, generalized |
| Cognitive decline | 3-8 years | Progressive dementia |
| Motor dysfunction | 4-10 years | Ataxia, spasticity |
| Speech loss | 4-10 years | Progressive |
| Death | 8-25 years | Variable |
Some CLN6 mutations cause adult-onset NCL (Kufs disease), characterized by:
| Mutation | Type | Frequency | Effect |
|---|---|---|---|
| c.325C>T | Nonsense | 20% | p.R109X |
| c.571G>A | Missense | 15% | p.G191R |
| c.634C>T | Nonsense | 10% | p.R212X |
| c.706T>C | Missense | 10% | p.F236L |
| c.862G>A | Missense | 8% | p.E288K |
The study of Cln6 Gene Ceroid Lipofuscinosis, Neuronal 6 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