Protein Variants | Comment | Organism |
---|---|---|
G46E | the mutation of the MCCA gene is associated with methylcrotonylglycinuria | Homo sapiens |
G517R | the mutation of the MCCB gene is associated with methylcrotonylglycinuria | Homo sapiens |
L355F | the mutation of the MCCB gene is associated with methylcrotonylglycinuria | Homo sapiens |
additional information | the IVS7-1GNA splice site mutation of the MCCB gene is associated with methylcrotonylglycinuria and shows 31fold reduced activity compared to the wild type | Homo sapiens |
Q477R | the mutation of the MCCB gene is associated with methylcrotonylglycinuria | Homo sapiens |
Y520S | the mutation of the MCCB gene is associated with methylcrotonylglycinuria | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
mononuclear cell | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
ATP + 3-methylcrotonoyl-CoA + HCO3- | - |
Homo sapiens | ADP + phosphate + 3-methylglutaconyl-CoA | - |
? |
Synonyms | Comment | Organism |
---|---|---|
3-methylcrotonyl-CoA carboxylase | - |
Homo sapiens |
MCC | - |
Homo sapiens |
MCCA | isoform | Homo sapiens |
MCCB | isoform | Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
ATP | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | deficiency of 3-methylcrotonyl-CoA carboxylase causes methylcrotonylglycinuria | Homo sapiens |