metabolism of cobalamin associated C
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The MMACHC 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 MMACHC 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 MMACHC protein plays a role in processing different forms of vitamin B12 so that they can be converted to either of the cofactors, AdoCbl or MeCbl. MMACHC also interacts with another protein called MMADHC (produced from the MMADHC gene). Together these proteins transport the processed 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
Other names
cblC
DKFZP564I122
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
methylmalonic aciduria and homocystinuria type C protein
Related patient information and medicines
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Kan jag ta Levotyroxin och Vitamin B12 tillsammans?
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Kan jag ta Vitamin B12 och Vitamin B2 tillsammans?
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 är both water-soluble vitamins from the B-complex family. They do not interfere with each other's absorption, metabolism, or excretion..
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Kan jag ta Vitamin C och Vitamin D tillsammans?
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Kan jag ta Hydroxokobalamin och Stexerol D3 tillsammans?
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Kan jag ta B-vitaminkomplex och C-vitamin tillsammans?
There is no harmful interaction between Vitamin B complex and Vitamin C. In fact, these water-soluble vitamins are often found together in the same supplement (such as Berocca or multivitamin tablets) because they work well together to support energy levels and the immune system. Why this happens Both Vitamin B complex and Vitamin C are.
Vidare läsning och referenser
- metabolism of cobalamin associated C; MedlinePlus, National Library of Medicine.
- 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.
- Hannibal L, Kim J, Brasch NE, Wang S, Rosenblatt DS, Banerjee R, Jacobsen DW. Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product. Mol Genet Metab. 2009 Aug;97(4):260-6. doi: 10.1016/j.ymgme.2009.04.005. Epub 2009 Apr 16.
- Kim J, Gherasim C, Banerjee R. Decyanation of vitamin B12 by a trafficking chaperone. Proc Natl Acad Sci U S A. 2008 Sep 23;105(38):14551-4. doi: 10.1073/pnas.0805989105. Epub 2008 Sep 8.
- Lerner-Ellis JP, Anastasio N, Liu J, Coelho D, Suormala T, Stucki M, Loewy AD, Gurd S, Grundberg E, Morel CF, Watkins D, Baumgartner MR, Pastinen T, Rosenblatt DS, Fowler B. Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. Hum Mutat. 2009 Jul;30(7):1072-81. doi: 10.1002/humu.21001.
- Lerner-Ellis JP, Tirone JC, Pawelek PD, Dore C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet. 2006 Jan;38(1):93-100. doi: 10.1038/ng1683. Epub 2005 Nov 27.
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2 Aug 2022 | Senaste versionen
1 Aug 2022 | Ursprungligen publicerad
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