GAMT wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human GAMT wild-type allele is located in the vicinity of 19p13.3 and is approximately 5 kb in length. This allele, which encodes guanidinoacetate N-methyltransferase protein, plays a role in the synthesis of creatine from arginine and glycine. Mutation of the gene is associated with cerebral creatine deficiency syndrome 2.

**Synonyms:** - Guanidinoacetate Methyltransferase Gene - Guanidinoacetate N-Methyltransferase wt Allele - HEL-S-20 - PIG2 - TP53I2