View MTHFR gene homepage

General information
Gene symbol MTHFR
Gene name methylenetetrahydrofolate reductase
Chromosome 1
Chromosomal band p36.22
Imprinted Not imprinted
Genomic reference LRG_726
Transcript reference NM_005957.4, XM_005263458.3, XM_005263460.4, XM_005263462.4, XM_005263463.3, XM_011541495.2, XM_011541496.2, XM_017001328.1
Associated with diseases -
Citation reference(s) -
Curators (1) Georgia Charalambous
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Date created September 25, 2017

Links to other resources
HGNC 7436
Entrez Gene 4524
PubMed articles MTHFR
OMIM - Gene 607093

Active transcripts




NCBI ID     

NCBI Protein ID     

00000325 1 methylenetetrahydrofolate reductase (NAD(P)H) NM_005957.4 NP_005948.3 0
00000326 1 methylenetetrahydrofolate reductase (NAD(P)H), transcript variant X1 XM_005263458.3 XP_005263515.1 0
00000327 1 methylenetetrahydrofolate reductase (NAD(P)H), transcript variant X4 XM_005263460.4 XP_005263517.1 0
00000328 1 methylenetetrahydrofolate reductase (NAD(P)H), transcript variant X5 XM_005263462.4 XP_005263519.1 0
00000329 1 methylenetetrahydrofolate reductase (NAD(P)H), transcript variant X7 XM_005263463.3 XP_005263520.1 0
00000330 1 methylenetetrahydrofolate reductase (NAD(P)H), transcript variant X2 XM_011541495.2 XP_011539797.1 0
00000331 1 methylenetetrahydrofolate reductase (NAD(P)H), transcript variant X3 XM_011541496.2 XP_011539798.1 0
00000332 1 methylenetetrahydrofolate reductase (NAD(P)H), transcript variant X6 XM_017001328.1 XP_016856817.1 0

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