AMT Gene Summary [Human]
This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Details
| Type | Protein Coding |
| Official Symbol | AMT |
| Official Name | aminomethyltransferase [Source:HGNC Symbol;Acc:HGNC:473] |
| Ensembl ID | ENSG00000145020 |
| Bio databases IDs | |
| Aliases | aminomethyltransferase, glycine cleavage system protein T, nonketotic hyperglycinemia |
| Synonyms | aminomethyltransferase, EG434437, GCE, GCE2, GCST, GCVT, NKH |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human AMT often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Glycine cleavage T-protein C-terminal barrel domain
- aminomethyltransferase
- Aminomethyltransferase folate-binding domain
- glycine cleavage system aminomethyltransferase GcvT
- glycine cleavage system T protein
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- nonalcoholic fatty liver disease
- non-ketotic hyperglycinemia
- glycine encephalopathy type 1
- Alzheimer disease
- glycine encephalopathy type 2
- hereditary disorder
- major depression
regulates
- Glycine cleavage system
- glycine
role in cell
- accumulation in
- accumulation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- mitochondrial matrix
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AMT gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glycine decarboxylation via glycine cleavage system
- glycine catabolic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- transaminase activity
- aminomethyltransferase activity