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Literature summary for 6.4.1.4 extracted from

  • Nguyen, K.; Naviaux, R.; Patra, S.; Barshop, B.; Nyhan, W.
    Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria (2011), Mol. Genet. Metab., 102, 218-221.
    View publication on PubMed

Protein Variants

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

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
mononuclear cell
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + 3-methylcrotonoyl-CoA + HCO3-
-
Homo sapiens ADP + phosphate + 3-methylglutaconyl-CoA
-
?

Synonyms

Synonyms Comment Organism
3-methylcrotonyl-CoA carboxylase
-
Homo sapiens
MCC
-
Homo sapiens
MCCA isoform Homo sapiens
MCCB isoform Homo sapiens

Cofactor

Cofactor Comment Organism Structure
ATP
-
Homo sapiens

General Information

General Information Comment Organism
malfunction deficiency of 3-methylcrotonyl-CoA carboxylase causes methylcrotonylglycinuria Homo sapiens