Mthfr Gene Summary [Rat]
Enables NADP binding activity; flavin adenine dinucleotide binding activity; and methylenetetrahydrofolate reductase (NAD(P)H) activity. Involved in several processes, including homocysteine metabolic process; response to interleukin-1; and response to vitamin B2. Predicted to be active in cytosol. Biomarker of hyperthyroidism; hypothyroidism; and liver benign neoplasm. Human ortholog(s) of this gene implicated in several diseases, including carcinoma (multiple); cardiovascular system disease (multiple); hematologic cancer (multiple); kidney failure (multiple); and liver disease (multiple). Orthologous to human MTHFR (methylenetetrahydrofolate reductase). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Mthfr |
| Official Name | methylenetetrahydrofolate reductase [Source:RGD Symbol;Acc:1309952] |
| Ensembl ID | ENSRNOG00000008553 |
| Bio databases IDs | |
| Aliases | methylenetetrahydrofolate reductase |
| Synonyms | Methylenetetrahydrofolate Reductase |
| Species | Rat, Rattus norvegicus |
| 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 rat 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
phenotypes
- Abortion Habitual
- Albuminuria
- Aortic Coarctation
- Arterial Occlusive Diseases
- Budd-Chiari Syndrome
- Conotruncal Cardiac Defects
- Diabetes Mellitus Experimental
- Diabetic Nephropathies
- Down Syndrome
- Graft vs Host Disease
- Graves Disease
- Hearing Loss
- Hearing Loss Sudden
- Hematologic Neoplasms
- Kuhnt-Junius degeneration
- Meniere's disease
- Microvascular Angina
- Stroke
- Thrombotic Microangiopathies
- Vascular Calcification
- Venous Thromboembolism
- Venous Thrombosis
- abdominal aortic aneurysm
- acute myeloid leukemia
- amyotrophic lateral sclerosis
- Anemia
- angle-closure glaucoma
- aphthous stomatitis
- asthma
- Atherosclerosis
- attention deficit hyperactivity disorder
- cardiovascular system disease
- Carotid Stenosis
- cataract
- Cerebral Infarction
- Cholangiocarcinoma
- chronic kidney disease
- chronic myeloid leukemia
- clear cell renal cell carcinoma
- Cleft Lip
- Coronary Artery Disease
- dextro-looped transposition of the great arteries
- Diabetic Retinopathy
- diffuse large B-cell lymphoma
- end stage renal failure
- eye disease
- factor VIII deficiency
- fatty liver disease
- Glomerulonephritis
- Homocystinuria
- Hyperhomocysteinemia
- Hyperthyroidism
- Hypopituitarism
- Hypothyroidism
- inflammatory bowel disease
- Ischemia
- kidney failure
- liver benign neoplasm
- lung small cell carcinoma
- male infertility
- migraine
- Migraine with Aura
- Multiple Myeloma
- myeloid neoplasm
- Myocardial Infarction
- nephroblastoma
- Nephrosclerosis
- neural tube defect
- Nonarteritic Anterior Ischemic Optic Neuropathy
- open-angle glaucoma
- Oral Squamous Cell Carcinoma
- osteonecrosis
- Osteosarcoma
- pancreatic cancer
- peripheral artery disease
- precursor lymphoblastic lymphoma/leukemia
- rectal neoplasm
- renal artery disease
- renal cell carcinoma
- retinal disease
- Retinal Vein Occlusion
- rheumatoid arthritis
- Schizophrenia
- sickle cell anemia
- spina bifida
- squamous cell carcinoma
- Tetralogy of Fallot
- Thrombocytopenia
- Thrombophilia
- thrombosis
- transitional cell carcinoma
- type 1 diabetes mellitus
- type 2 diabetes mellitus
- urinary bladder cancer
- Habitual Abortions
- Sudden Hearing Loss
- increased heart weight
- increased urine protein level
- Banti's Syndrome
- Left Ventricular Hypertrophy
- alcoholic liver cirrhosis
- Hepatic Veno-Occlusive Disease
- hepatocellular carcinoma
- Liver Cirrhosis
- Non-alcoholic Fatty Liver Disease
- portal vein thrombosis
- benign rectal neoplasm
- end stage renal disease
- rectal benign neoplasm
- Experimental Diabetes Mellitus
- Helicobacter Infections
- cardia cancer
- Diabetes Mellitus
- Familial Mediterranean Fever
- Hepatitis B
- papillomavirus infectious disease
- sporadic breast cancer
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 rat 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