Rabbit anti-Human GATM Polyclonal Antibody

Uniprot Id

P50440

Target Species

Human

Target Name

GATM

Target Full Name

Glycine amidinotransferase, mitochondrial

Target 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.

Target Involvement

Cerebral creatine deficiency syndrome 3 (CCDS3)

Target Subcellular Location

[Isoform 1]: Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side. Note=Probably attached to the outer side of the inner membrane.; [Isoform 2]: Cytoplasm.

Target Protein Families

Amidinotransferase family

Target Tissue Specificity

Expressed in brain, heart, kidney, liver, lung, salivary gland and skeletal muscle tissue, with the highest expression in kidney. Biallelically expressed in placenta and fetal tissues.

Target Synonyms

AGAT; AT; GATM; GATM_HUMAN; Glycine amidinotransferase; Glycine amidinotransferase, mitochondrial; L-arginine:glycine amidinotransferase; mitochondrial; Transamidinase

Target Background

This gene encodes 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 immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by cognitive disability, language impairment, and behavioral disorders.