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MGP000140

UniProt Annotations

Entry Information
Gene Nameaminomethyltransferase
Protein EntryGCST_HUMAN
UniProt IDP48728
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=P48728-1; Sequence=Displayed; Name=2; IsoId=P48728-2; Sequence=VSP_042557; Note=No experimental confirmation available.; Name=3; IsoId=P48728-3; Sequence=VSP_043288; Note=No experimental confirmation available.; Name=4; IsoId=P48728-4; Sequence=VSP_045418; Note=No experimental confirmation available.;
Catalytic Activity[Protein]-S(8)-aminomethyldihydrolipoyllysine + tetrahydrofolate = [protein]-dihydrolipoyllysine + 5,10- methylenetetrahydrofolate + NH(3).
DiseaseNon-ketotic hyperglycinemia (NKH) [MIM:605899]: Autosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms. {ECO:0000269|PubMed:10873393, ECO:0000269|PubMed:11286506, ECO:0000269|PubMed:8005589, ECO:0000269|PubMed:9600239, ECO:0000269|PubMed:9621520}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionThe glycine cleavage system catalyzes the degradation of glycine.
SimilarityBelongs to the GcvT family. {ECO:0000305}.
Subcellular LocationMitochondrion.
SubunitThe glycine cleavage system is composed of four proteins: P, T, L and H. {ECO:0000269|PubMed:16051266}.
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