Recombinant Human Guanidinoacetate N-methyltransferase (GAMT)

Uniprot Id

Q14353

Target Species

Human

Target Name

GAMT

Target Full Name

Guanidinoacetate N-methyltransferase

Target Function

Converts guanidinoacetate to creatine, using S-adenosylmethionine as the methyl donor. Important in nervous system development.

Target Involvement

Cerebral creatine deficiency syndrome 2 (CCDS2)

Target Protein Families

Class I-like SAM-binding methyltransferase superfamily, RMT2 methyltransferase family

Target Tissue Specificity

Expressed in liver.

Target Synonyms

CCDS2; Epididymis secretory protein Li 20; GAMT; GAMT_HUMAN; Guanidinoacetate N methyltransferase; Guanidinoacetate N-methyltransferase; HEL-S-20; PIG2; TP53I2

Target Background

The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13.