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MTRR gene

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

Key facts

Official symbol
MTRR
Full name
MTRR
Chromosome
5
Map location
5p15.31
Organism
Homo sapiens
NCBI Gene ID
4552
Also known as
MSR, cblE

Function summary

This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activity of the encoded enzyme is important for folate metabolism and cellular methylation. Mutations in this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015].

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Data source: NCBI Gene · alsesAI Gene Library