Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about TGM6: 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.
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| Gene Symbol | TGM6 |
| Chromosome | 20p13 |
| Function | TGM6 encodes transglutaminase 6 (TG6), a member of the transglutaminase enzyme family. |
| Primary Expression | the central nervous system |
| Ensembl ID | ENSG00000166157 |
| GeneCards | TGM6 |
| Human Protein Atlas | TGM6 |
| Protein cross-linking | Catalyzes calcium-dependent transamidation reactions, forming ε-(γ-glutamyl)lysine isopeptide bonds between substrate proteins in the CNS |
| Neuronal development | Involved in neuronal differentiation, neurite outgrowth, and cerebellar development, particularly during Purkinje cell maturation |
| Cytoskeletal organization | Cross-links cytoskeletal and structural proteins to maintain neuronal architecture and dendritic integrity |
| Protein homeostasis | Participates in post-translational modification of proteins that may regulate their stability and interactions |
| Cerebellar function | High expression in the cerebellum suggests a specific role in cerebellar circuitry and motor coordination |
| First identified | Wang et al. (2010) mapped SCA35 to chromosome 20p13 in a Chinese family and identified TGM6 missense mutations |
| Mutations | Multiple missense mutations have been identified, including: |
| L517W | The first reported pathogenic mutation; disrupts catalytic core function |
| Associated Diseases | neurodegeneration |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
Knowledge base pages for this entity
graph TD
TGM6["TGM6"]
neurodegeneration["neurodegeneration"]
TGM6 -->|"implicated_in"| neurodegeneration
style TGM6 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
No analyses mention this entity
Experimental studies targeting or related to this entity
| Experiment | Type | Disease | Score | Feasibility | Model | Status | Est. Cost |
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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 TGM6 in their description or question text
No additional research found