DISEASES

Disease-gene associations mined from literature

Literature associating GAMT and creatine transporter deficiency

GAMT [ENSP00000403536]

Guanidinoacetate N-methyltransferase; Converts guanidinoacetate to creatine, using S- adenosylmethionine as the methyl donor. Important in nervous system development; Belongs to the class I-like SAM-binding methyltransferase superfamily. RMT2 methyltransferase family.

Synonyms:  GAMT,  HEL-S-20,  Q14353,  V9HWB2,  Q14353p ...

Linkouts:  STRING  Pharos  UniProt  OMIM