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MGP000844

UniProt Annotations

Entry Information
Gene Namesarcosine dehydrogenase
Protein EntrySARDH_HUMAN
UniProt IDQ9UL12
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UL12-1; Sequence=Displayed; Name=2; IsoId=Q9UL12-2; Sequence=VSP_056309; Note=No experimental confirmation available.;
Catalytic ActivitySarcosine + H(2)O + electron-transfer flavoprotein = glycine + formaldehyde + reduced electron-transfer flavoprotein.
CofactorName=FAD; Xref=ChEBI:CHEBI:57692; Evidence={ECO:0000250}; Note=Binds 1 FAD covalently per monomer. {ECO:0000250};
DiseaseSarcosinemia (SARCOS) [MIM:268900]: A metabolic disorder characterized by an increased concentration of sarcosine in plasma and an increased excretion of sarcosine in urine. Sarcosinemia is most probably a benign condition without significant clinical problems. Some reports have associated sarcosinemia with mental retardation and neurologic problems. {ECO:0000269|PubMed:10444331, ECO:0000269|PubMed:22825317}. Note=The disease is caused by mutations affecting the gene represented in this entry.
PathwayAmine and polyamine degradation; sarcosine degradation; formaldehyde and glycine from sarcosine: step 1/1.
Sequence CautionSequence=AAD33412.1; Type=Frameshift; Positions=867; Evidence={ECO:0000305};
SimilarityBelongs to the GcvT family. {ECO:0000305}.
Subcellular LocationMitochondrion matrix {ECO:0000250}.
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