Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about CLN7: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.
CLN7 encodes MFSD8, a lysosomal transporter protein. Biallelic mutations cause Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL), a fatal neurodegenerative storage disease.
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| Gene Symbol | CLN7 |
| Full Name | Ceroid Lipofuscinosis, Neuronal 7 |
| Aliases | LINCL |
| Chromosome | 4q28.2 |
| Protein Type | Transporter |
| Function | is a human gene that encodes a lysosomal membrane protein functioning as a putative transporter. |
| Primary Expression | Brain, retina, liver, kidney, lung |
| Amino Acids | 476 aa |
| UniProt ID | Q8N5M4 |
| NCBI Gene ID | 256281 |
| Ensembl ID | ENSG00000167695 |
| OMIM | 614804 |
| GeneCards | CLN7 |
| Human Protein Atlas | CLN7 |
| Associated Diseases | neurodegeneration |
| Databases | GeneCardsHPASTRING |
Knowledge base pages for this entity
graph TD
CLN7["CLN7"]
neurodegeneration["neurodegeneration"]
CLN7 -->|"implicated_in"| neurodegeneration
style CLN7 fill:#4a1a6b,stroke:#4fc3f7,stroke-width:2px,color:#e0e0e0| Target | Relation | Type | Str |
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Hypotheses where this entity is a therapeutic target
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Scientific analyses that reference this entity
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Experimental studies targeting or related to this entity
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Scientific publications cited in analyses involving this entity
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Multi-agent debates referencing this entity
No debates reference this entity
Hypotheses and analyses mentioning CLN7 in their description or question text
No additional research found