MTRR

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]

Description

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Intermediate filaments, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

5 (7851186 - 7906025)

Ensembl ID

ENSG00000124275  (ver. 103.38)

Orthologs

Mouse Mtrr: ENSMUSG00000034617

UniProt

Q9UBK8

neXtProt

NX_Q9UBK8

Human splice variants
Mouse splice variants

Protein structure