glycine amidinotransferase, mitochondrial; L-arginine:glycine amidinotransferase (GATM)

Function

• amine & polyamine biosynthesis; creatine biosynthesis creatine from L-arginine & glycine: step 1/2

L-arginine + glycine <--> L-ornithine + guanidinoacetate

Structure

• homodimer (equilibrium between monomeric & dimeric forms, shifted towards monomer)
• one chain folds into a compact single domain composed of repeating units, five beta-beta-alpha-beta modules, which surround the central active site belongs to the amidinotransferase family

Compartment

• mitochondrial inner membrane; intermembrane side; mitochondrial form is found in the intermembrane space probably attached to the outer side of the inner membrane
• peripheral membrane protein (putative)
• cytoplasm

Alternative splicing

named isoforms=2

mitochondrial, cytoplasmic

Expression

kidney

Pathology

• defects in GATM are the cause of L-arginine:glycine amidinotransferase deficiency

More general terms

• amidinotransferase
• mitochondrial protein
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2628
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2628
• Kegg: http://www.genome.jp/dbget-bin/www_bget?son:SO_221
• OMIM: https://mirror.omim.org/entry/602360
• UniProt: http://www.uniprot.org/uniprot/P50440.html