MTHFR

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]

Methylenetetrahydrofolate Reductase

Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine (PubMed:29891918).

Represents a key regulatory connection between the folate and methionine cycles (Probable).

Heterochromatin organization Source: BHF-UCL
Homocysteine metabolic process Source: UniProtKB
Methionine biosynthetic process Source: GO_Central
Methionine metabolic process Source: BHF-UCL
Neural tube closure Source: BHF-UCL
Regulation of histone methylation Source: BHF-UCL
Response to amino acid Source: Ensembl
Response to folic acid Source: Ensembl
Response to hypoxia Source: Ensembl
Response to interleukin-1 Source: Ensembl
Response to vitamin B2 Source: Ensembl
Response to xenobiotic stimulus Source: Ensembl
S-adenosylmethionine metabolic process Source: Ensembl
Tetrahydrofolate interconversion Source: UniProtKB

Cytosol
Other locations
synapse

Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD):
An autosomal recessive inborn error of folate metabolism. Clinical severity is variable, ranging from severe neurologic features to absence of symptoms. Clinical features include homocysteinuria, homocysteinemia, developmental delay, severe mental retardation, perinatal death, psychiatric disturbances, and later-onset neurodegenerative disorders.
Ischemic stroke (ISCHSTR):
A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors.
Neural tube defects, folate-sensitive (NTDFS):
The most common NTDs are open spina bifida (myelomeningocele) and anencephaly.
Schizophrenia (SCZD):
A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder.

Phosphorylation of an N-terminal serine-rich phosphorylation region increases sensitivity to S-adenosylmethionine and inhibition.