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Article

Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR)

Mammalian genome : official journal of the International Mammalian Genome Society - 1 Aug 1998

Goyette P, Pai A, Milos R, Frosst P, Tran P, Chen Z, Chan M, Rozen R

Abstract excerpt

Methylenetetrahydrofolate reductase (MTHFR) catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. A human cDNA for MTHFR, 2.2 kb in length, has been expressed and shown to result in a catalytically active enzyme of approximately 70 kDa. Fifteen mutations have been identified in the MTHFR gene: 14 rare mutations...

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Source

Identifiers

PMID: 9680386
DOI: 10.1007/s003359900838

Genes

MTHFR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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