MTRR Gene Summary [Human]
This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activity of the encoded enzyme is important for folate metabolism and cellular methylation. Mutations in this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Details
| Type | Processed Transcript |
| Official Symbol | MTRR |
| Official Name | 5-methyltetrahydrofolate-homocysteine methyltransferase reductase [Source:HGNC Symbol;Acc:HGNC:7473] |
| Ensembl ID | ENSG00000124275 |
| Bio databases IDs | |
| Aliases | 5-methyltetrahydrofolate-homocysteine methyltransferase reductase, Methionine synthase reductase |
| Synonyms | 4732420G08, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase, cblE, LOC107986404, MSR |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MTRR often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- FNR_like
- FAD binding domain
- flavin adenine dinucleotide binding
- flavodoxin
- enzyme
- protein binding
- [methionine synthase]-cobalamin methyltransferase (cob(II)alamin reducing)
- NADPH-dependent FMN reductase
- FAD binding
- NADPH binding
- FMN binding
- metal ion oxidising:NAD or NADP oxidoreductase
- sulfite reductase [NADPH] flavoprotein, alpha-component
- Oxidoreductase NAD-binding domain
- NADPH-ferrihemoprotein reductase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- tumorigenesis
- susceptibility to folate-sensitive neural tube defects
- methylcobalamin deficiency
- hereditary disorder
- Alzheimer disease
- cblE complementation type homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism
- homocystinuria
- side effect
- Down syndrome
- methylcobalamin deficiency cblG type
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intermediate filament cytoskeleton
- Mitochondria
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MTRR gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- methionine biosynthetic process
- homocysteine catabolic process
- S-adenosylmethionine cycle
- folic acid metabolic process
- homocysteine metabolic process
Cellular Component
Where in the cell the gene product is active
- intermediate filament cytoskeleton
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- FAD binding
- oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor
- protein binding
- FMN binding
- flavin adenine dinucleotide binding
- NADPH-hemoprotein reductase activity
- NADPH binding
- [methionine synthase] reductase activity