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MGP002211

UniProt Annotations

Entry Information
Gene Namepropionyl CoA carboxylase, beta polypeptide
Protein EntryPCCB_HUMAN
UniProt IDP05166
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P05166-1; Sequence=Displayed; Name=2; IsoId=P05166-2; Sequence=VSP_042568; Note=No experimental confirmation available.;
Catalytic ActivityATP + propanoyl-CoA + HCO(3)(-) = ADP + phosphate + (S)-methylmalonyl-CoA.
DiseasePropionic acidemia type II (PA-2) [MIM:606054]: Life- threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein. {ECO:0000269|PubMed:10447268, ECO:0000269|PubMed:12189489, ECO:0000269|PubMed:12559849, ECO:0000269|PubMed:15059621, ECO:0000269|PubMed:2154743, ECO:0000269|PubMed:8411997, ECO:0000269|PubMed:9683601}. Note=The disease is caused by mutations affecting the gene represented in this entry.
PathwayMetabolic intermediate metabolism; propanoyl-CoA degradation; succinyl-CoA from propanoyl-CoA: step 1/3.
SimilarityBelongs to the AccD/PCCB family. {ECO:0000305}.
SimilarityContains 1 carboxyltransferase domain. {ECO:0000305}.
Subcellular LocationMitochondrion matrix {ECO:0000269|PubMed:16023992}.
SubunitProbably a dodecamer composed of six biotin-containing alpha subunits and six beta subunits.
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