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MGP001154

UniProt Annotations

Entry Information
Gene Nameguanidinoacetate N-methyltransferase
Protein EntryGAMT_HUMAN
UniProt IDQ14353
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q14353-1; Sequence=Displayed; Name=2; IsoId=Q14353-2; Sequence=VSP_042722; Note=No experimental confirmation available.;
Catalytic ActivityS-adenosyl-L-methionine + guanidinoacetate = S-adenosyl-L-homocysteine + creatine. {ECO:0000255|PROSITE- ProRule:PRU00892}.
DiseaseCerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]: An autosomal recessive disorder characterized by developmental delay and regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures, movement disturbances, severe depletion of creatine and phosphocreatine in the brain, and accumulation of guanidinoacetic acid in brain and body fluids. {ECO:0000269|PubMed:12468279, ECO:0000269|PubMed:15108290, ECO:0000269|PubMed:15651030, ECO:0000269|PubMed:16293431, ECO:0000269|PubMed:16855203, ECO:0000269|PubMed:17101918, ECO:0000269|PubMed:17466557, ECO:0000269|PubMed:19388150, ECO:0000269|PubMed:23660394, ECO:0000269|PubMed:24415674, ECO:0000269|PubMed:8651275}. Note=The disease is caused by mutations affecting the gene represented in this entry.
PathwayAmine and polyamine biosynthesis; creatine biosynthesis; creatine from L-arginine and glycine: step 2/2.
SimilarityBelongs to the class I-like SAM-binding methyltransferase superfamily. RMT2 methyltransferase family. {ECO:0000255|PROSITE-ProRule:PRU00892}.
SimilarityContains 1 RMT2 (arginine N-methyltransferase 2-like) domain. {ECO:0000255|PROSITE-ProRule:PRU00892}.
SubunitMonomer. {ECO:0000250}.
Tissue SpecificityExpressed in liver. {ECO:0000269|PubMed:8651275}.
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