Page last updated: 2024-10-06

Defects in vitamin and cofactor metabolism

Proteins (17)

ProteinSynonymsTaxonomy
Acetyl-CoA carboxylase 1ACC1; EC 6.4.1.2; Acetyl-Coenzyme A carboxylase alpha; ACC-alphaHomo sapiens (human)
Propionyl-CoA carboxylase alpha chain, mitochondrialPCCase subunit alpha; EC 6.4.1.3; Propanoyl-CoA:carbon dioxide ligase subunit alphaHomo sapiens (human)
Propionyl-CoA carboxylase beta chain, mitochondrialPCCase subunit beta; EC 6.4.1.3; Propanoyl-CoA:carbon dioxide ligase subunit betaHomo sapiens (human)
Methionine synthaseMS; EC 2.1.1.13; 5-methyltetrahydrofolate--homocysteine methyltransferase; Cobalamin-dependent methionine synthase; Vitamin-B12 dependent methionine synthaseHomo sapiens (human)
Cyanocobalamin reductase / alkylcobalamin dealkylaseAlkylcobalamin:glutathione S-alkyltransferase; 2.5.1.151; CblC; Cyanocobalamin reductase (cyanide-eliminating); 1.16.1.6; Methylmalonic aciduria and homocystinuria type C protein; MMACHCHomo sapiens (human)
Cubilin460 kDa receptor; Intestinal intrinsic factor receptor; Intrinsic factor-cobalamin receptor; Intrinsic factor-vitamin B12 receptorHomo sapiens (human)
Pyruvate carboxylase, mitochondrialEC 6.4.1.1; Pyruvic carboxylase; PCBHomo sapiens (human)
Methylmalonyl-CoA mutase, mitochondrialMCM; EC 5.4.99.2; Methylmalonyl-CoA isomeraseHomo sapiens (human)
Methionine synthase reductase MSR; EC 1.16.1.8; Aquacobalamin reductase; AqCbl reductase; 1.16.1.-Homo sapiens (human)
Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrialMCCase subunit alpha; EC 6.4.1.4; 3-methylcrotonyl-CoA carboxylase 1; 3-methylcrotonyl-CoA carboxylase biotin-containing subunit; 3-methylcrotonyl-CoA:carbon dioxide ligase subunit alphaHomo sapiens (human)
Methylcrotonoyl-CoA carboxylase beta chain, mitochondrialMCCase subunit beta; EC 6.4.1.4; 3-methylcrotonyl-CoA carboxylase 2; 3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit; 3-methylcrotonyl-CoA:carbon dioxide ligase subunit betaHomo sapiens (human)
CD320 antigen8D6 antigen; FDC-signaling molecule 8D6; FDC-SM-8D6; Transcobalamin receptor; TCblRHomo sapiens (human)
Cobalamin binding intrinsic factorGastric intrinsic factor; Intrinsic factor; IF; INFHomo sapiens (human)
Lysosomal cobalamin transporter ABCD4ATP-binding cassette sub-family D member 4; PMP70-related protein; P70R; Peroxisomal membrane protein 1-like; PXMP1-L; Peroxisomal membrane protein 69; PMP69Homo sapiens (human)
Transcobalamin-2TC-2; Transcobalamin II; TC II; TCIIHomo sapiens (human)
Protein amnionlessHomo sapiens (human)
Lysosomal cobalamin transport escort protein LMBD1LMBD1; HDAg-L-interacting protein NESI; LMBR1 domain-containing protein 1; Nuclear export signal-interacting proteinHomo sapiens (human)

Compounds (14)

CompoundDescription
hydronium ion
biotinA water-soluble, enzyme co-factor present in minute amounts in every living cell. It occurs mainly bound to proteins or polypeptides and is abundant in liver, kidney, pancreas, yeast, and milk.
ManganeseA trace element with atomic symbol Mn, atomic number 25, and atomic weight 54.94. It is concentrated in cell mitochondria, mostly in the pituitary gland, liver, pancreas, kidney, and bone, influences the synthesis of mucopolysaccharides, stimulates hepatic synthesis of cholesterol and fatty acids, and is a cofactor in many enzymes, including arginase and alkaline phosphatase in the liver. (From AMA Drug Evaluations Annual 1992, p2035)
ZincA metallic element of atomic number 30 and atomic weight 65.38. It is a necessary trace element in the diet, forming an essential part of many enzymes, and playing an important role in protein synthesis and in cell division. Zinc deficiency is associated with ANEMIA, short stature, HYPOGONADISM, impaired WOUND HEALING, and geophagia. It is known by the symbol Zn.
Flavin MononucleotideA coenzyme for a number of oxidative enzymes including NADH DEHYDROGENASE. It is the principal form in which RIBOFLAVIN is found in cells and tissues.
Cobalamins
WaterA clear, odorless, tasteless liquid that is essential for most animal and plant life and is an excellent solvent for many substances. The chemical formula is hydrogen oxide (H2O). (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
5-methyltetrahydrofolate
cobamamide
NADPNicotinamide adenine dinucleotide phosphate. A coenzyme composed of ribosylnicotinamide 5'-phosphate (NMN) coupled by pyrophosphate linkage to the 5'-phosphate adenosine 2',5'-bisphosphate. It serves as an electron carrier in a number of reactions, being alternately oxidized (NADP+) and reduced (NADPH). (Dorland, 27th ed)
adenosine triphosphateAn adenine nucleotide containing three phosphate groups esterified to the sugar moiety. In addition to its crucial roles in metabolism adenosine triphosphate is a neurotransmitter.
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)
Flavin-Adenine DinucleotideA condensation product of riboflavin and adenosine diphosphate. The coenzyme of various aerobic dehydrogenases, e.g., D-amino acid oxidase and L-amino acid oxidase. (Lehninger, Principles of Biochemistry, 1982, p972)
biocytin