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  3. GAMT

GAMT (Guanidinoacetate N-methyltransferase)

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The Function of GAMT

Converts guanidinoacetate to creatine, using S-adenosylmethionine as the methyl donor (PubMed:26003046, PubMed:24415674, PubMed:26319512). Important in nervous system development (PubMed:24415674).

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Protein names

Recommended name:

Guanidinoacetate N-methyltransferase

Top Gene-Substance Interactions

GAMT Interacts with These Diseases

Disease Score

Substances That Increase GAMT

Substances Interaction Organism Category

Substances That Decrease GAMT

Substances Interaction Organism Category

Advanced Summary

     guanidinoacetate methyltransferase deficiency At least 49 mutations in the GAMT gene cause guanidinoacetate methyltransferase deficiency, a disorder that involves intellectual disability and seizures. Most affected individuals of Portuguese ancestry have a particular mutation in which the amino acid tryptophan is replaced by the amino acid serine at position 20 in the enzyme (written as Trp20Ser or W20S). GAMT gene mutations impair the ability of the guanidinoacetate methyltransferase enzyme to participate in creatine synthesis, resulting in a shortage of creatine. The effects of guanidinoacetate methyltransferase deficiency are most severe in organs and tissues that require large amounts of energy, especially the brain.

     The GAMT gene provides instructions for making the enzyme guanidinoacetate methyltransferase, which is active (expressed) mainly in the liver. This enzyme participates in the two-step production (synthesis) of the compound creatine from the protein building blocks (amino acids) glycine, arginine, and methionine . Specifically, guanidinoacetate methyltransferase controls the second step of this process. In this step, creatine is produced from another compound called guanidinoacetate. Creatine is needed for the body to store and use energy properly. It is involved in providing energy for muscle contraction, and is also important in nervous system functioning. In addition to its role in creatine synthesis, the guanidinoacetate methyltransferase enzyme is thought to help activate a process called fatty acid oxidation. This process provides an energy source for cells during times of stress when their normal fuel, the simple sugar glucose, is scarce.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • CUTL1
  • Pax-6
  • E2F-1
  • E2F-4
  • E2F-5
  • YY1
  • Nkx5-1

Tissue specificity:

Expressed in liver.

Gene Pathways:

  • Metabolic pathways
  • Metabolism
  • Arginine and proline metabolism
  • Glycine, serine and threonine metabolism

Molecular Function:

  • Guanidinoacetate N-Methyltransferase Activity
  • Methyltransferase Activity

Biological Processes:

  • Animal Organ Morphogenesis
  • Creatine Biosynthetic Process
  • Creatine Metabolic Process
  • Muscle Contraction
  • Regulation Of Multicellular Organism Growth
  • S-Adenosylhomocysteine Metabolic Process
  • S-Adenosylmethionine Metabolic Process
  • Spermatogenesis
  • Embryonic Liver Development

Drug Bank:

  • Creatine
  • Guanidine
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| null| Anapl_15096| CB1_000215005| CCDS2| D623_10015603| epididymis secretory protein Li 20| gamt-a| gamt-b| GMT| guanidinoacetate methyltransferase| Guanidinoacetate N-methyltransferase A| guanidinoacetate N-methyltransferase-like protein| GW7_17068| H920_09842| HEL-S-20| MDA_GLEAN10011495| N300_02483| N302_05654| N303_15282| N307_14523| N310_06034| N325_08514| PAL_GLEAN10005928| PANDA_012746| PIG2| Spintz1| TP53I2| TREES_T100020142| Y1Q_012637| Z169_16229| gamt

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