Mtr Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Mtr 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.
MTR (5-Methyltetrahydrofolate-Homocysteine Methyltransferase) is a gene encoding methionine synthase, also known as cobalamin-dependent methionine synthase (MS).
| Attribute | Value |
|---|---|
| Gene Symbol | MTR |
| Full Name | 5-Methyltetrahydrofolate-Homocysteine Methyltransferase |
| Chromosomal Location | 1q43 |
| NCBI Gene ID | 4548 |
| OMIM ID | 156570 |
| Ensembl ID | ENSG00000116984 |
| UniProt ID | Q99707 |
Methionine synthase catalyzes the re-methylation of homocysteine to methionine using 5-methyltetrahydrofolate as the methyl donor and cobalamin (vitamin B12) as a cofactor. This reaction is crucial for:
The enzyme is located in the cytoplasm and requires cobalamin for its function.
Mutations in MTR cause:
MTR polymorphisms (e.g., D919G) are associated with:
Mtr Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
The study of Mtr 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.
Gulati et al. (1996) - "CblE disease: a disorder of cobalamin metabolism" - Nature Genetics.
Christensen et al. (2010) - "MTR polymorphisms and neural tube defects" - Birth Defects Research.