Guanidinoacetate N-methyltransferase pseudogene

Guanidinoacetate N-methyltransferase pseudogenes are nonfunctional DNA segments in the human genome that resemble the coding region for guanidinoacetate N-methyltransferase (GAMT), an enzyme essential for creatine biosynthesis and energy storage. Unlike the functional GAMT gene, these pseudogenes do not produce an active protein product and typically have no direct physiological function. They may be transcribed at low levels, but are not known to play a role in disease, serve as drug targets, or act as biomarkers. Pseudogenes like this arise through evolutionary processes such as gene duplication or retrotransposition and accumulate mutations that prevent expression of a functional enzyme

Other names

GAMT pseudogene