MTRR Antibody – Rabbit Polyclonal

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]

MTRR: Involved in the reductive regeneration of cob(I)alamin cofactor required for the maintenance of methionine synthase in a functional state. Defects in MTRR are the cause of methylcobalamin deficiency type E (cblE); also known as vitamin B12- responsive homocystinuria or homocystinuria-megaloblastic anemia complementation type E. Patients who are defective in reductive activation of methionine synthase exhibit megaloblastic anemia, developmental delay, hypomethioninemia, and hyperhomocysteinemia, a risk factor in cardiovascular disease and neural tube defects. It is an autosomal recessive disease. Defects in MTRR may be a cause of susceptibility to folate-sensitive neural tube defects (FS-NTD). The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. Genetic defects in MTRR may affect the risk of spina bifida via the maternal rather than the embryonic genotype. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Oxidoreductase; EC 1.16.1.8

Chromosomal Location of Human Ortholog: 5p15.31

Cellular Component: cytoplasm; cytosol; intermediate filament cytoskeleton; nucleoplasm

Molecular Function: [methionine synthase] reductase activity; aquacobalamin reductase (NADPH) activity; FAD binding; FMN binding; iron ion binding; NADP binding; NADPH-hemoprotein reductase activity; oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor; protein binding

Biological Process: cobalamin metabolic process; DNA methylation; folic acid metabolic process; homocysteine catabolic process; methionine biosynthetic process; methionine metabolic process; methylation; S-adenosylmethionine cycle; sulfur amino acid metabolic process; vitamin metabolic process; water-soluble vitamin metabolic process; xenobiotic metabolic process

Disease: Homocystinuria-megaloblastic Anemia, Cble Complementation Type; Neural Tube Defects, Folate-sensitive