QuickView for GATM (gene)

Gene Symbol:

GATM Homo sapiens

Full name:

glycine amidinotransferase

Synonyms:

AGAT, AT, CCDS3, glycine amidinotransferase, mitochondrial, glycine amidinotransferase (L-arginine:glycine amidinotransferase), testicular secretory protein Li 19, transamidinase

Genomic Location:

Chr 15: 43440614-43458272

Description:

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 amidinotransf...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Bos taurus ,  Canis lupus familiaris ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

SMTTTTGT_UNKNOWN ,  GATA_Q6 ,  GATA_C ,  GATAAGR_GATA_C ,  ALPHACP1_01 ,  CAGGTG_E12_Q6 ,  E47_02 ,  GATA6_01 ,  MEIS1AHOXA9_01 ,  WTTGKCTG_UNKNOWN ,  TGACAGNY_MEIS1_01

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Cytogenetic Map:

15q21.1

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