Cln5 Gene Ceroid Lipofuscinosis, Neuronal 5 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 | CLN5 |
| Gene Name | Ceroid Lipofuscinosis, Neuronal 5 |
| Official Full Name | CLN5, Lysosomal Trafficking Protein |
| Chromosomal Location | 13q22.3 |
| GRCh38 Coordinates | chr13:77,029,618-77,041,929 |
| NCBI Gene ID | 1203 |
| OMIM ID | 608096 |
| Ensembl ID | ENSG00000157540 |
| UniProt ID | Q9NWW5 |
| Gene Family | CLN5 family |
The CLN5 gene encodes a lysosomal protein involved in the pathogenesis of neuronal ceroid lipofuscinosis (NCL). CLN5 is a soluble lysosomal protein that interacts with other NCL proteins to form a complex involved in lysosomal function and autophagy. Mutations in CLN5 cause variant forms of Batten disease, typically with late infantile or juvenile onset[1].
CLN5 is a 407-amino acid soluble lysosomal glycoprotein (48 kDa). It contains a signal peptide for secretion and is targeted to lysosomes via mannose-6-phosphate-independent pathways[2].
CLN5 interacts with:
CLN5 mutations cause a form of NCL with variable onset[1]:
| Feature | Onset | Progression |
|---|---|---|
| Vision loss | 5-10 years | Progressive retinal degeneration |
| Seizures | 5-10 years | Myoclonic, generalized |
| Cognitive decline | 5-10 years | Progressive dementia |
| Motor dysfunction | 6-12 years | Ataxia, spasticity |
| Speech decline | 6-12 years | Progressive loss |
| Death | 10-20 years | Variable |
| Mutation | Type | Frequency | Effect |
|---|---|---|---|
| c.1175_1177delAGA | In-frame deletion | 30% | p.K392del |
| c.391T>C | Missense | 15% | p.Y131H |
| c.526G>A | Missense | 10% | p.D176N |
| c.887G>A | Missense | 8% | p.W296X |
| c.328C>T | Nonsense | 5% | p.R110X |
The study of Cln5 Gene Ceroid Lipofuscinosis, Neuronal 5 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