Recombinant Human Methionine synthase reductase (MTRR)

Uniprot Id

Q9UBK8

Target Species

Human

Target Name

MTRR

Target Full Name

Methionine synthase reductase

Target Function

Key enzyme in methionine and folate homeostasis responsible for the reactivation of methionine synthase (MTR/MS) activity by catalyzing the reductive methylation of MTR-bound cob(II)alamin. Cobalamin (vitamin B12) forms a complex with MTR to serve as an intermediary in methyl transfer reactions that cycles between MTR-bound methylcob(III)alamin and MTR bound-cob(I)alamin forms, and occasional oxidative escape of the cob(I)alamin intermediate during the catalytic cycle leads to the inactive cob(II)alamin species (Probable). The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMADHC, MTRR and MTR which may contribute to shuttle safely and efficiently cobalamin towards MTR in order to produce methionine. Also necessary for the utilization of methyl groups from the folate cycle, thereby affecting transgenerational epigenetic inheritance. Also acts as a molecular chaperone for methionine synthase by stabilizing apoMTR and incorporating methylcob(III)alamin into apoMTR to form the holoenzyme. Also serves as an aquacob(III)alamin reductase by reducing aquacob(III)alamin to cob(II)alamin; this reduction leads to stimulation of the conversion of apoMTR and aquacob(III)alamin to MTR holoenzyme.

Target Involvement

Homocystinuria-megaloblastic anemia, cblE complementation type (HMAE); Neural tube defects, folate-sensitive (NTDFS)

Target Subcellular Location

[Isoform B]: Cytoplasm.; [Isoform A]: Cytoplasm.

Target Tissue Specificity

Found in all tissues tested, particularly abundant in skeletal muscle.

Target Research Area

Metabolism

Target Synonyms

MTRR; Methionine synthase reductase; MSR; EC 1.16.1.8

Target Background

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.