Page last updated: 2024-10-06

MTHFR deficiency

Proteins (14)

ProteinSynonymsTaxonomy
Methionine--tRNA ligase, cytoplasmicEC 6.1.1.10; Methionyl-tRNA synthetase; MetRSHomo sapiens (human)
Glutamate receptor ionotropic, NMDA 2DGluN2D; EB11; Glutamate [NMDA] receptor subunit epsilon-4; N-methyl D-aspartate receptor subtype 2D; NMDAR2D; NR2DHomo sapiens (human)
Glutamate receptor ionotropic, NMDA 1GluN1; Glutamate [NMDA] receptor subunit zeta-1; N-methyl-D-aspartate receptor subunit NR1; NMD-R1Homo sapiens (human)
Histamine N-methyltransferaseHMT; EC 2.1.1.8Homo sapiens (human)
Choline kinase alphaCK; EC 2.7.1.32; CHETK-alpha; Ethanolamine kinase; EK; 2.7.1.82Homo sapiens (human)
Betaine--homocysteine S-methyltransferase 1EC 2.1.1.5Homo sapiens (human)
Choline dehydrogenase, mitochondrialCDH; CHD; EC 1.1.99.1Homo sapiens (human)
Choline-phosphate cytidylyltransferase AEC 2.7.7.15; CCT-alpha; CTP:phosphocholine cytidylyltransferase A; CCT A; CT A; Phosphorylcholine transferase AHomo sapiens (human)
Phosphatidylethanolamine N-methyltransferasePEAMT; PEMT; EC 2.1.1.17; EC 2.1.1.71; PEMT2; Phospholipid methyltransferase; PLMTHomo sapiens (human)
Cholinephosphotransferase 1hCPT1; EC 2.7.8.2; AAPT1-like protein; Diacylglycerol cholinephosphotransferase 1Homo sapiens (human)
Alpha-aminoadipic semialdehyde dehydrogenaseAlpha-AASA dehydrogenase; EC 1.2.1.31; Aldehyde dehydrogenase family 7 member A1; 1.2.1.3; Antiquitin-1; Betaine aldehyde dehydrogenase; 1.2.1.8; Delta1-piperideine-6-carboxylate dehydrogenase; P6c dehydrogenaseHomo sapiens (human)
Cytochrome cHomo sapiens (human)
Protein arginine methyltransferase NDUFAF7 Homo sapiens (human)
Glutamate receptorHomo sapiens (human)

Compounds (13)

CompoundDescription
5-methyltetrahydrofolate
betaineA naturally occurring compound that has been of interest for its role in osmoregulation. As a drug, betaine hydrochloride has been used as a source of hydrochloric acid in the treatment of hypochlorhydria. Betaine has also been used in the treatment of liver disorders, for hyperkalemia, for homocystinuria, and for gastrointestinal disturbances. (From Martindale, The Extra Pharmacopoeia, 30th ed, p1341)
cytidine diphosphate cholineDonor of choline in biosynthesis of choline-containing phosphoglycerides.
CalciumA basic element found in nearly all tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes.
cholineA basic constituent of lecithin that is found in many plants and animal organs. It is important as a precursor of acetylcholine, as a methyl donor in various metabolic processes, and in lipid metabolism.
PhosphorylcholineCalcium and magnesium salts used therapeutically in hepatobiliary dysfunction.
s-adenosylmethioninePhysiologic methyl radical donor involved in enzymatic transmethylation reactions and present in all living organisms. It possesses anti-inflammatory activity and has been used in treatment of chronic liver disease. (From Merck, 11th ed)
5,10-methylenetetrahydrofolate
homocysteine thiolactone
betaine aldehyde
dimethylglycinemetabolic product of calcium pangamate; mutagen when mixed with nitrite; RN given refers to parent cpd
HomocysteineA thiol-containing amino acid formed by a demethylation of METHIONINE.
s-adenosylhomocysteine5'-S-(3-Amino-3-carboxypropyl)-5'-thioadenosine. Formed from S-adenosylmethionine after transmethylation reactions.