AMT
Function
The glycine cleavage system catalyzes the degradation of glycine.
Involvement in disease
Glycine encephalopathy 2
GCE2
A form of glycine encephalopathy, a metabolic disorder characterized by a high concentration of glycine in the body fluids. Affected individuals typically have severe neurological symptoms, including seizure, lethargy, and muscular hypotonia soon after birth. Most of them die within the neonatal period. Atypical cases have later disease onset and less severely affected psychomotor development.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the GcvT family.
Cellular localization
- Mitochondrion
Alternative names
GCST, AMT, Glycine cleavage system T protein, GCVT