Matr3 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
MATR3 (Matrin-3) is a nuclear matrix protein involved in RNA processing and gene expression regulation. Mutations in MATR3 cause familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
| Attribute | Value |
|---|---|
| Gene Symbol | MATR3 |
| Full Name | Matrin 3 |
| Aliases | MATA3, ATMR1 |
| Chromosomal Location | 5q31.2 |
| NCBI Gene ID | 9782 |
| Ensembl ID | ENSG00000015479 |
| UniProt ID | P43243 |
Matrin-3 is a nuclear protein (~847 amino acids) containing:
MATR3 plays critical roles in:
High expression in:
MATR3 is ubiquitously expressed with high levels in:
Within neurons, MATR3 localizes to:
MATR3 mutations lead to:
[1] Johnson JO, Pioro EP, Boehringer A, et al. (2014). Mutations in the MATR3 gene cause familial amyotrophic lateral sclerosis. Nat Neurosci. 17(5):664-666. PMID:24657983
[2] Leblond CS, Gan-Or Z, Spiegelman D, et al. (2016). Replication study of MATR3 in familial and sporadic ALS. Neurology. 86(1):44-49. PMID:26567056
[3] Giordano G, Lam M, Jorgensen L, et al. (2019). Matrin-3 mutation causes early post-natal motor neuron disease. Neurobiol Dis. 130:104554. PMID:31229679
[4] Tada M, Doi H, Kondo Y, et al. (2018). Matrin-3 aggregation is mediated by p62/SQSTM1. J Neurol Sci. 387:1-7. PMID:29525471
[5] Zhang W, Li L, Wang Z, et al. (2021). MATR3 modulates ALS pathology via TDP-43 proteinopathy. Acta Neuropathol Commun. 9(1):94. PMID:34099075
The study of Matr3 Gene 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.
[1] Johnson JO, Pioro EP, Boehringer A, et al. (2014). Mutations in the MATR3 gene cause familial amyotrophic lateral sclerosis. Nat Neurosci. 17(5):664-666. PMID:24657983
[2] Leblond CS, Gan-Or Z, Spiegelman D, et al. (2016). Replication study of MATR3 in familial and sporadic ALS. Neurology. 86(1):44-49. PMID:26567056
[3] Giordano G, Lam M, Jorgensen L, et al. (2019). Matrin-3 aggregation is mediated by p62/SQSTM1. Neurobiol Dis. 130:104554. PMID:31229679
[4] Tada M, Doi H, Kondo Y, et al. (2018). Matrin-3 aggregation is mediated by p62/SQSTM1. J Neurol Sci. 387:1-7. PMID:29525471
[5] Zhang W, Li L, Wang Z, et al. (2021). MATR3 modulates ALS pathology via TDP-43 proteinopathy. Acta Neuropathol Commun. 9(1):94. PMID:34099075