GATM

GATM is a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immedia

Full Name

Glycine Amidinotransferase

Function

Catalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system development. May be involved in the response to heart failure by elevating local creatine synthesis.

Biological Process

Creatine biosynthetic process Source: MGI
Creatine metabolic process Source: CAFA
Learning or memory Source: CAFA
Multicellular organism development Source: CAFA
Muscle atrophy Source: CAFA
Positive regulation of cold-induced thermogenesis Source: YuBioLab

Cellular Location

Isoform 1: Mitochondrion inner membrane. Probably attached to the outer side of the inner membrane.
Isoform 2: Cytoplasm

Involvement in disease

Cerebral creatine deficiency syndrome 3 (CCDS3):
An autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. Most patients develop a myopathy characterized by muscle weakness and atrophy later in life.
Fanconi renotubular syndrome 1 (FRTS1):
A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS1 inheritance is autosomal dominant.