Page last updated: 2024-10-06

Defects in biotin (Btn) metabolism

Proteins (6)

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)
Pyruvate carboxylase, mitochondrialEC 6.4.1.1; Pyruvic carboxylase; PCBHomo 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)

Compounds (4)

CompoundDescription
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)
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.
biocytin