| 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 |
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