Skip to main content

Aminomethyltransferase, mitochondrial

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

Target type

Proteins

Primary research area

Metabolism

Molecular weight

43946Da

We found 1 product in 1 category

Proteins & Peptides

Target

Species of origin

Search our catalogue for 'Aminomethyltransferase, mitochondrial' (1)

Products