MitoProteome Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins

MT000033

UniProt Annotations

Entry Information

Gene Name	aminomethyltransferase
Protein Entry	GCST_HUMAN
UniProt ID	P48728
Species	Human

Comments

Comment type	Description
Alternative Products	Event=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).
Disease	Non-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.
Function	The glycine cleavage system catalyzes the degradation of glycine.
Similarity	Belongs to the GcvT family. {ECO:0000305}.
Subcellular Location	Mitochondrion.
Subunit	The glycine cleavage system is composed of four proteins: P, T, L and H. {ECO:0000269\|PubMed:16051266}.