MTRR

Also known as MSR, cblE, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase

protein-coding gene in the species Homo sapiens

Gene data

MTRR

Name: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Type: protein-coding
Position: 7,851,186–7,906,025 (+)
Aliases: MSR, cblE
Ensembl: ENSG00000124275
RefSeq RNA: NM_001364440.2, NM_001364441.2, NM_001364442.2, NM_002454.3, NM_024010.4
RefSeq protein: NP_001351369.1, NP_001351370.1, NP_001351371.1, NP_002445.2, NP_076915.3

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].