MTHFR
entrez
4524
canonical
uniprot
P42898
canonical
ensembl
ENSG00000177000
resolver
ensp
ENSP00000365767
resolver
ensp
ENSP00000365775
resolver
ensp
ENSP00000398908
resolver
ensp
ENSP00000493098
resolver
ensp
ENSP00000581143
resolver
ensp
ENSP00000581144
resolver
ensp
ENSP00000581145
resolver
ensp
ENSP00000646946
resolver
enst
ENST00000423400
resolver
enst
ENST00000641407
resolver
genesymbol
MTHFR
resolver
hgnc
HGNC:7436
resolver
uniprot
A0A0A6YYS9
resolver
uniprot
A0A0K0K1D6
resolver
uniprot
A0A286YFD0
resolver
uniprot
B2R7A6
resolver
uniprot
F6XU28
resolver
uniprot
Q59GJ6
resolver
uniprot
Q5SNW6
resolver
uniprot
Q5SNW7
resolver
uniprot
Q5SNW9
resolver
uniprot
Q7Z6M6
resolver
uniprot
Q8IU67
resolver
uniprot
Q8IU73
resolver
uniprot
Q9UQR2
resolver
uniprot_entry
A0A286YFD0_HUMAN
resolver
uniprot_entry
MTHR_HUMAN
resolver
uniprot_entry
Q59GJ6_HUMAN
resolver
uniprot_entry
Q5SNW7_HUMAN
resolver
uniprot_entry
Q8IU67_HUMAN
resolver
uniprot_sec
A0A0A6YYS9
resolver
uniprot_sec
A0A0K0K1D6
resolver
uniprot_sec
B2R7A6
resolver
uniprot_sec
F6XU28
resolver
uniprot_sec
Q5SNW6
resolver
uniprot_sec
Q5SNW9
resolver
uniprot_sec
Q7Z6M6
resolver
uniprot_sec
Q8IU73
resolver
uniprot_sec
Q9UQR2
resolver
activity_regulation
ACTIVITY REGULATION: Allosterically regulated by S-adenosylmethionine (SAM). {ECO:0000269|PubMed:29891918}.
uniprot
proteins
amino_acid_sequence
MVNEARGNSSLNPCLEGSASSGSESSKDSSRCSTPGLDPERHERLREKMRRRLESGDKWFSLEFFPPRTAEGAVNLISRFDRMAAGGPLYIDVTWHPAGDPGSDKETSSMMIASTAVNYCGLETILHMTCCRQRLEEITGHLHKAKQLGLKNIMALRGDPIGDQWEEEEGGFNYAVDLVKHIRSEFGDYFDICVAGYPKGHPEAGSFEADLKHLKEKVSAGADFIITQLFFEADTFFRFVKACTDMGITCPIVPGIFPIQGYHSLRQLVKLSKLEVPQEIKDVIEPIKDNDAAIRNYGIELAVSLCQELLASGLVPGLHFYTLNREMATTEVLKRLGMWTEDPRRPLPWALSAHPKRREEDVRPIFWASRPKSYIYRTQEWDEFPNGRWGNSSSPAFGELKDYYLFYLKSKSPKEELLKMWGEELTSEESVFEVFVLYLSGEPNRNGHKVTCLPWNDEPLAAETSLLKEELLRVNRQGILTINSQPNINGKPSSDPIVGWGPSGGYVFQKAYLEFFTSRETAEALLQVLKKYELRVNYHLVNVKGENITNAPELQPNAVTWGIFPGREIIQPTVVDPVSFMFWKDEAFALWIERWGKLYEEESPSRTIIQYIHDNYFLVNLVDNDFPLDNCLWQVVEDTLELLNRPTQNARETEAP
uniprot
proteins
disease_involvement
DISEASE: Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity (MTHFRD) [MIM:236250]: 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 intellectual disability, perinatal death, psychiatric disturbances, and later-onset neurodegenerative disorders. {ECO:0000269|PubMed:10679944, ECO:0000269|PubMed:20236116, ECO:0000269|PubMed:25736335, ECO:0000269|PubMed:25818041, ECO:0000269|PubMed:7726158, ECO:0000269|PubMed:8940272, ECO:0000269|PubMed:9781030}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Ischemic stroke (ISCHSTR) [MIM:601367]: 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. {ECO:0000269|PubMed:15534175}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Neural tube defects, folate-sensitive (NTDFS) [MIM:601634]: The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. {ECO:0000269|PubMed:10323741, ECO:0000269|PubMed:7564788, ECO:0000269|PubMed:8826441}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Schizophrenia (SCZD) [MIM:181500]: 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. {ECO:0000269|PubMed:15729744, ECO:0000269|PubMed:18583979}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.5.1.53
uniprot
proteins
function
FUNCTION: 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). {ECO:0000269|PubMed:25736335, ECO:0000269|PubMed:29891918, ECO:0000305}.
uniprot
proteins
mass_dalton
74597
uniprot
proteins
mutagenesis
MUTAGEN 368; /note="A->G,L: No effect on S-adenosylmethionine-binding."; /evidence="ECO:0000269|PubMed:29891918"; MUTAGEN 463; /note="E->D,Q: Loss of S-adenosylmethionine-binding."; /evidence="ECO:0000269|PubMed:29891918
uniprot
proteins
pathway_participation
PATHWAY: One-carbon metabolism; tetrahydrofolate interconversion. {ECO:0000305|PubMed:29891918}.
uniprot
proteins
post_translational_modification
PTM: Phosphorylation of an N-terminal serine-rich phosphorylation region increases sensitivity to S-adenosylmethionine and inhibition. {ECO:0000269|PubMed:29891918}.
uniprot
proteins
protein_family
Methylenetetrahydrofolate reductase family
uniprot
proteins
pubmed
10323741
uniprot
proteins
pubmed
10536004
uniprot
proteins
pubmed
10679944
uniprot
proteins
pubmed
12370778
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15534175
uniprot
proteins
pubmed
15729744
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18583979
uniprot
proteins
pubmed
18987736
uniprot
proteins
pubmed
20236116
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25736335
uniprot
proteins
pubmed
25818041
uniprot
proteins
pubmed
29891918
uniprot
proteins
pubmed
7564788
uniprot
proteins
pubmed
7647779
uniprot
proteins
pubmed
7726158
uniprot
proteins
pubmed
7920641
uniprot
proteins
pubmed
7951330
uniprot
proteins
pubmed
8826441
uniprot
proteins
pubmed
8895734
uniprot
proteins
pubmed
8940272
uniprot
proteins
pubmed
9545395
uniprot
proteins
pubmed
9545406
uniprot
proteins
pubmed
9680386
uniprot
proteins
pubmed
9719624
uniprot
proteins
pubmed
9781030
uniprot
proteins
sequence_length
656
uniprot
proteins