5-methyltetrahydrofolate-homocysteine methyltransferase
Last updated 8 May 2023
Meets Patient’s editorial guidelines
- DownloadDownload
- Share
- Language
- Discussion
- Audio Version
- Add to preferred sources on Google
The MTR gene provides instructions for making an enzyme called methionine synthase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Specifically, methionine synthase carries out a chemical reaction that converts the amino acid homocysteine to another amino acid called methionine. The body uses methionine to make proteins and other important compounds. To function properly, methionine synthase requires methylcobalamin (a form of vitamin B12) and another enzyme called methionine synthase reductase, which is produced from the MTRR gene.
Normal function
The MTR gene provides instructions for making an enzyme called methionine synthase. This enzyme plays a role in processing amino acids, the building blocks of proteins. Specifically, methionine synthase carries out a chemical reaction that converts the amino acid homocysteine to another amino acid called methionine. The body uses methionine to make proteins and other important compounds. To function properly, methionine synthase requires methylcobalamin (a form of vitamin B12) and another enzyme called methionine synthase reductase, which is produced from the MTRR gene.
Conditions referring to this gene or chromosome
Other names
5-methyltetrahydrofolate-homocysteine methyltransferase 1
5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase
cblG
cobalamin-dependent methionine synthase
Homocysteine-methyl tetrahydrofolate methyltransferase
METH_HUMAN
Methionine Synthase
Tetrahydropteroylglutamate Methyltransferase
Related patient information and medicines
Patient information leaflet
Kawasaki disease
Kawasaki disease is a rare condition that affects small to medium-sized blood vessels in the body. Kawasaki disease causes the the walls of the blood vessels to become inflamed and swollen (vasculitis). Kawasaki disease mainly affects children less than 5 years old. The exact cause of Kawasaki disease remains unknown. Kawasaki disease causes a.
Patient information leaflet
Travelling to remote locations
It is so that if you seek medical help from doctors and nurses in the country where you are travelling, they can advise you wha... Self-treatment is a last resort as it is very difficult for anyone to make treatment decisions about themselves. Reference book Pocket First Aid and Wilderness Medicine: Drs Jim Duff and Peter Gormly (2010). This is an.
Patient information leaflet
Parkinson's disease
Parkinson's disease is a progressive neurological degeneration of certain cells (called dopaminergic cells) within a specific part of the brain (substantia nigra). The deficiency of dopamine leads to a movement disorder with Parkinson's disease symptoms. The National Institute for Health and Care Excellence (NICE) has just approved a few devices.
Patient information leaflet
Macrocytosis and macrocytic anaemia
Macrocytosis refers to red blood cells which are larger than normal. It does not cause any symptoms in itself. Macrocytosis symptoms You may also find relevant information in our other separate leaflet called What is blood. Macrocytosis can exist without anaemia. Macrocytosis itself does not cause any symptoms but can be a sign of low levels of.
Patient information leaflet
Acute pancreatitis
It is occasionally possible to have acute pancreatitis without any pain; this is more common in people with diabetes or kidney problems. Being sick (vomiting). A high temperature (fever) and generally feeling very unwell are common. Swollen abdomen. If the pancreatitis becomes severe and other organs become involved (for example, the heart, lungs.
Patient information leaflet
Polycystic kidney disease
Polycystic kidney disease (PKD) causes many fluid-filled sacs (cysts) to develop in the kidneys. The most common type of PKD is an inherited condition called autosomal dominant polycystic kidney disease (ADPKD). With ADPKD, problems commonly do not develop until the age of 30-50, with some people never developing any problems. About half of ADPKD.
Further reading and references
- 5-methyltetrahydrofolate-homocysteine methyltransferase; MedlinePlus, National Library of Medicine.
- Bosco P, Gueant-Rodriguez RM, Anello G, Barone C, Namour F, Caraci F, Romano A, Romano C, Gueant JL. Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome. Am J Med Genet A. 2003 Sep 1;121A(3):219-24. doi: 10.1002/ajmg.a.20234.
- Carmel R, Green R, Rosenblatt DS, Watkins D. Update on cobalamin, folate, and homocysteine. Hematology Am Soc Hematol Educ Program. 2003:62-81. doi: 10.1182/asheducation-2003.1.62.
- Doolin MT, Barbaux S, McDonnell M, Hoess K, Whitehead AS, Mitchell LE. Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida. Am J Hum Genet. 2002 Nov;71(5):1222-6. doi: 10.1086/344209. Epub 2002 Oct 9.
- Gueant-Rodriguez RM, Rendeli C, Namour B, Venuti L, Romano A, Anello G, Bosco P, Debard R, Gerard P, Viola M, Salvaggio E, Gueant JL. Transcobalamin and methionine synthase reductase mutated polymorphisms aggravate the risk of neural tube defects in humans. Neurosci Lett. 2003 Jul 3;344(3):189-92. doi: 10.1016/s0304-3940(03)00468-3.
- Watkins D, Ru M, Hwang HY, Kim CD, Murray A, Philip NS, Kim W, Legakis H, Wai T, Hilton JF, Ge B, Dore C, Hosack A, Wilson A, Gravel RA, Shane B, Hudson TJ, Rosenblatt DS. Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. Am J Hum Genet. 2002 Jul;71(1):143-53. doi: 10.1086/341354. Epub 2002 May 30.
Join the conversation
Share your thoughts or experiences with others in our patient communities.
Ask, share, connect.
Browse discussions, ask questions, and share experiences across hundreds of health topics.
Sign up to the Patient newsletter
Your weekly dose of clear, trustworthy health advice - written to help you feel informed, confident and in control.
By subscribing you accept our Privacy Policy. You can unsubscribe at any time. We never sell your data.