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Immunogen sequence: QELLASGLV PGLHFYTLNR EMATTEVLKR LGMWTEDPRR PLPWALSAHP KRREEDVRPI FWASRPKSYI YRTQEWDEFP NGRWGNSSSP AFGELKDYYL FYLKSKSPKE ELLKMWGEEL TSEASVFEVF VLYLSGEPNR NGHKVTCLPW NDEPLAAETS LLKEELLRVN RQGILTINSQ PNINGKPSSD PIVGWGPSGG YVFQKAYLEF FTSRETAEAL LQVLKKYELR VNYHLVNVKG ENITNAPELQ PNAVTWGIFP GREIIQPTVV DPVSFMFWKD EAFALWIEQW GKLYEEESPS RTIIQYIHDN YFLVNLVDND FPLDNCLWQV VEDTLELLNR PTQNARETEA P (307-656 aa encoded by BC053509)
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: 5,10-methylenetetrahydrofolate reductase (NADPH); Methylenetetrahydrofolate reductase; RP11-56N19.4
Gene Aliases: MTHFR
UniProt ID: (Human) P42898
Entrez Gene ID: (Human) 4524
Molecular Function: reductase