MTHFR Gene Summary [Human]
The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | MTHFR |
| Official Name | methylenetetrahydrofolate reductase [Source:HGNC Symbol;Acc:HGNC:7436] |
| Ensembl ID | ENSG00000177000 |
| Bio databases IDs | |
| Aliases | methylenetetrahydrofolate reductase |
| Synonyms | Methylenetetrahydrofolate Reductase |
| 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 MTHFR often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Methylenetetrahydrofolate reductase
- methylenetetrahydrofolate reductase (NADPH2)
- methylenetetrahydrofolate reductase (ferredoxin)
- flavin adenine dinucleotide binding
- MTHFR
- binding protein
- NADP binding
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- chemotherapy toxicity
- gastric cancer
- multiple sclerosis
- COVID-19
- hypertension
- neoplasia
- stroke
- susceptibility to folate-sensitive neural tube defects
- homocystinuria due to MTHFR deficiency
- schizophrenia
role in cell
- apoptosis
- survival
- cell death
- production in
- formation
- organization
- density
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
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MTHFR gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- methionine biosynthetic process
- heterochromatin organization
- response to vitamin B2
- response to amino acid stimulus
- response to xenobiotic stimulus
- S-adenosylmethionine metabolic process
- methionine metabolic process
- response to hypoxia
- neural tube closure
- response to folic acid
- response to interleukin-1
- tetrahydrofolate interconversion
- homocysteine metabolic process
Cellular Component
Where in the cell the gene product is active
- cytosol
Molecular Function
What the gene product does at the molecular level
- modified amino acid binding
- FAD binding
- NADP binding
- flavin adenine dinucleotide binding
- methylenetetrahydrofolate reductase (NADPH) activity