GAMT Gene Summary [Human]
The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]
Details
| Type | Protein Coding |
| Official Symbol | GAMT |
| Official Name | guanidinoacetate N-methyltransferase [Source:HGNC Symbol;Acc:HGNC:4136] |
| Ensembl ID | ENSG00000130005 |
| Bio databases IDs | |
| Aliases | guanidinoacetate N-methyltransferase |
| Synonyms | AA571402, CCDS2, GMT, guanidinoacetate methyltransferase, guanidinoacetate N-methyltransferase, HEL-S-20, PIG2, Spintz1, TP53I2 |
| 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 GAMT often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- methyltransferase
- guanidinoacetate N-methyltransferase
- enzyme
- protein binding
- AdoMet_MTases
- S-adenosylmethionine-dependent methyltransferase
- identical 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
- disorder of creatine synthesis
- guanidinoacetate methyltransferase deficiency
- hereditary disorder
- oligozoospermia
role in cell
- expression in
- phosphorylation in
- number
- survival
- density
- maturation
- damage
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
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GAMT gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of multicellular organism growth
- muscle contraction
- spermatogenesis
- creatine metabolic process
- creatine biosynthetic process
- methylation
- organ morphogenesis
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding
- methyltransferase activity
- guanidinoacetate N-methyltransferase activity