metabolism of cobalamin associated D
Última actualización 26 de julio de 2023
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The MMADHC gene provides instructions for making a protein that helps convert vitamin B12 (also called cobalamin) into one of two molecules, adenosylcobalamin (AdoCbl) or methylcobalamin (MeCbl). AdoCbl is required for the normal function of an enzyme known as methylmalonyl CoA mutase. This enzyme helps break down certain protein building blocks (amino acids), fat building blocks (fatty acids), and cholesterol. AdoCbl is called a cofactor because it helps methylmalonyl CoA mutase carry out its function. MeCbl is also a cofactor, but for an enzyme known as methionine synthase. This enzyme converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.
Normal function
The MMADHC gene provides instructions for making a protein that helps convert vitamin B12 (also called cobalamin) into one of two molecules, adenosylcobalamin (AdoCbl) or methylcobalamin (MeCbl). AdoCbl is required for the normal function of an enzyme known as methylmalonyl CoA mutase. This enzyme helps break down certain protein building blocks (amino acids), fat building blocks (fatty acids), and cholesterol. AdoCbl is called a cofactor because it helps methylmalonyl CoA mutase carry out its function. MeCbl is also a cofactor, but for an enzyme known as methionine synthase. This enzyme converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.
Research indicates that the MMADHC protein plays a role in one of the last steps in AdoCbl and MeCbl formation. Together with another protein called MMACHC (produced from the MMACHC gene), MMADHC transports vitamin B12 to regions of the cell in which each cofactor is needed: specialized structures that serve as energy-producing centers (the mitochondria), where AdoCbl functions, or the fluid inside the cell (the cytoplasm), where MeCbl functions. Additional chemical reactions then convert vitamin B12 into AdoCbl or MeCbl.
Conditions referring to this gene or chromosome
Otros nombres
C2orf25
cblD
CL25022
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
methylmalonic aciduria and homocystinuria type D protein, mitochondrial
methylmalonic aciduria and homocystinuria type D protein, mitochondrial precursor
methylmalonic aciduria and homocystinuria, cblD type
MMAD_HUMAN
Related patient information and medicines
Patient information leaflet
¿Puedo tomar Ashwagandha y Vitamina B12 juntos?
They do not compete for absorption or interfere with each other's effects. Ashwagandha and Vitamin B12 (cobalamin) use different pathways in the body. Ashwagandha is primarily metabolised by liver enzymes, while Vitamin B12 is absorbed in the small intestine and stored in the liver. How to take ashwagandha and vitamin B12 safely You can continue.
Patient information leaflet
¿Puedo tomar Levotiroxina y Vitamina B12 juntos?
They do not interfere with how each other works in the body, nor do they change how each other is absorbed or broken down. Why this happens Levothyroxine is a synthetic thyroid hormone absorbed in the small intestine, while vitamin B12 (cobalamin) is absorbed further down in the ileum with the help of 'intrinsic factor'. They use different.
Patient information leaflet
¿Puedo tomar Vitamina B12 y Vitamina B2 juntas?
There is no known harmful interaction between vitamin B12 (cobalamin) and vitamin B2 (riboflavin). In fact, these vitamins often work together to support your health. Why this happens Vitamin B12 and vitamin B2 are both water-soluble vitamins from the B-complex family. They do not interfere with each other's absorption, metabolism, or excretion..
Patient information leaflet
¿Puedo tomar Hidroxocobalamina y Stexerol D3 juntos?
There are no known harmful interactions between hydroxocobalamin and Stexerol-D3. It is safe to take these two medications together. Why this happens Hydroxocobalamin es a form of Vitamin B12, and Stexerol-D3 is a brand of Vitamin D3 (cholecalciferol). These vitamins are processed by different pathways in the body and do not interfere with each.
Patient information leaflet
¿Puedo tomar Hidroxocobalamina y Lipitor juntos?
Hay no known interactions between hydroxocobalamin (Vitamin B12) and Lipitor (atorvastatin). It is safe to take these two medications together. Why this happens These medications are processed by different pathways in the body. Hydroxocobalamin es un synthetic form of Vitamin B12 used to treat deficiencies, while Lipitor is a statin used to.
Patient information leaflet
¿Puedo tomar hierba de San Juan y vitamina B12 juntas?
Why this happens St John's wort is known to affect the liver enzymes (specifically CYP3A4) and a transport protein (P-glycoprotein) that clear many medicines from the body. However, Vitamin B12 (cobalamin) is a water-soluble vitamin that is absorbed and processed by the body through different pathways that are not affected by these enzymes. What.
Lecturas adicionales y referencias
- metabolism of cobalamin associated D; MedlinePlus, National Library of Medicine.
- Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B. Gene identification for the cblD defect of vitamin B12 metabolism. N Engl J Med. 2008 Apr 3;358(14):1454-64. doi: 10.1056/NEJMoa072200.
- Froese DS, Kopec J, Fitzpatrick F, Schuller M, McCorvie TJ, Chalk R, Plessl T, Fettelschoss V, Fowler B, Baumgartner MR, Yue WW. Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking. J Biol Chem. 2015 Dec 4;290(49):29167-77. doi: 10.1074/jbc.M115.683268. Epub 2015 Oct 19.
- Miousse IR, Watkins D, Coelho D, Rupar T, Crombez EA, Vilain E, Bernstein JA, Cowan T, Lee-Messer C, Enns GM, Fowler B, Rosenblatt DS. Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism. J Pediatr. 2009 Apr;154(4):551-6. doi: 10.1016/j.jpeds.2008.10.043. Epub 2008 Dec 5.
- Plesa M, Kim J, Paquette SG, Gagnon H, Ng-Thow-Hing C, Gibbs BF, Hancock MA, Rosenblatt DS, Coulton JW. Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B(1)(2) metabolism. Mol Genet Metab. 2011 Feb;102(2):139-48. doi: 10.1016/j.ymgme.2010.10.011. Epub 2010 Oct 21.
- Stucki M, Coelho D, Suormala T, Burda P, Fowler B, Baumgartner MR. Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism. Hum Mol Genet. 2012 Mar 15;21(6):1410-8. doi: 10.1093/hmg/ddr579. Epub 2011 Dec 8.
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26 de julio de 2023 | Última versión
1 Aug 2022 | Publicado originalmente
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