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MGP005740

UniProt Annotations

Entry Information
Gene Namemethylcrotonoyl-CoA carboxylase 2 (beta)
Protein EntryMCCB_HUMAN
UniProt IDQ9HCC0
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9HCC0-1; Sequence=Displayed; Name=2; IsoId=Q9HCC0-2; Sequence=VSP_000069; Note=No experimental confirmation available.;
Biophysicochemical PropertiesKinetic parameters: KM=45 uM for ATP {ECO:0000269|PubMed:17360195}; KM=74 uM for 3-methylcrotonyl-CoA {ECO:0000269|PubMed:17360195}; Note=kcat is 4.0 sec(-1).;
Catalytic ActivityATP + 3-methylcrotonoyl-CoA + HCO(3)(-) = ADP + phosphate + 3-methylglutaconyl-CoA. {ECO:0000269|PubMed:17360195}.
DiseaseMethylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]: An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3- hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. {ECO:0000269|PubMed:11170888, ECO:0000269|PubMed:11181649, ECO:0000269|PubMed:11406611, ECO:0000269|PubMed:16010683, ECO:0000269|PubMed:17968484, ECO:0000269|PubMed:21071250, ECO:0000269|PubMed:22150417, ECO:0000269|PubMed:22264772, ECO:0000269|PubMed:22642865}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCarboxyltransferase subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3- methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism. {ECO:0000269|PubMed:17360195}.
PathwayAmino-acid degradation; L-leucine degradation; (S)-3- hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 2/3.
Sequence CautionSequence=AAH14897.1; Type=Frameshift; Positions=359; Evidence={ECO:0000305};
SimilarityBelongs to the AccD/PCCB family. {ECO:0000305}.
SimilarityContains 1 carboxyltransferase domain. {ECO:0000305}.
Subcellular LocationMitochondrion matrix {ECO:0000269|PubMed:11170888, ECO:0000269|PubMed:16023992}.
SubunitProbably a dodecamer composed of six biotin-containing alpha subunits (MCCC1) and six beta (MCCC2) subunits.
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