Page last updated: 2024-10-06
MTHFR deficiency
Proteins (14)
| Protein | Synonyms | Taxonomy |
|---|
| Methionine--tRNA ligase, cytoplasmic | EC 6.1.1.10; Methionyl-tRNA synthetase; MetRS | Homo sapiens (human) |
| Glutamate receptor ionotropic, NMDA 2D | GluN2D; EB11; Glutamate [NMDA] receptor subunit epsilon-4; N-methyl D-aspartate receptor subtype 2D; NMDAR2D; NR2D | Homo sapiens (human) |
| Glutamate receptor ionotropic, NMDA 1 | GluN1; Glutamate [NMDA] receptor subunit zeta-1; N-methyl-D-aspartate receptor subunit NR1; NMD-R1 | Homo sapiens (human) |
| Histamine N-methyltransferase | HMT; EC 2.1.1.8 | Homo sapiens (human) |
| Choline kinase alpha | CK; EC 2.7.1.32; CHETK-alpha; Ethanolamine kinase; EK; 2.7.1.82 | Homo sapiens (human) |
| Betaine--homocysteine S-methyltransferase 1 | EC 2.1.1.5 | Homo sapiens (human) |
| Choline dehydrogenase, mitochondrial | CDH; CHD; EC 1.1.99.1 | Homo sapiens (human) |
| Choline-phosphate cytidylyltransferase A | EC 2.7.7.15; CCT-alpha; CTP:phosphocholine cytidylyltransferase A; CCT A; CT A; Phosphorylcholine transferase A | Homo sapiens (human) |
| Phosphatidylethanolamine N-methyltransferase | PEAMT; PEMT; EC 2.1.1.17; EC 2.1.1.71; PEMT2; Phospholipid methyltransferase; PLMT | Homo sapiens (human) |
| Cholinephosphotransferase 1 | hCPT1; EC 2.7.8.2; AAPT1-like protein; Diacylglycerol cholinephosphotransferase 1 | Homo sapiens (human) |
| Alpha-aminoadipic semialdehyde dehydrogenase | Alpha-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 dehydrogenase | Homo sapiens (human) |
| Cytochrome c | | Homo sapiens (human) |
| Protein arginine methyltransferase NDUFAF7 | | Homo sapiens (human) |
| Glutamate receptor | | Homo sapiens (human) |
Compounds (13)
| Compound | Description |
|---|
| 5-methyltetrahydrofolate | |
| betaine | A 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 choline | Donor of choline in biosynthesis of choline-containing phosphoglycerides. |
| Calcium | A 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. |
| choline | A 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. |
| Phosphorylcholine | Calcium and magnesium salts used therapeutically in hepatobiliary dysfunction. |
| s-adenosylmethionine | Physiologic 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 | |
| dimethylglycine | metabolic product of calcium pangamate; mutagen when mixed with nitrite; RN given refers to parent cpd |
| Homocysteine | A thiol-containing amino acid formed by a demethylation of METHIONINE. |
| s-adenosylhomocysteine | 5'-S-(3-Amino-3-carboxypropyl)-5'-thioadenosine. Formed from S-adenosylmethionine after transmethylation reactions. |