rs2140638700
This variant is located in the GATM gene.
▶ClinVar annotation
Arginine:glycine amidinotransferase deficiency
View on ClinVar →About GATM
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. [provided by RefSeq, Jul 2008]
View all GATM variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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