glyA

The glyA gene encodes for serine hydroxymethyltransferase (SHMT), a key enzyme in the folate metabolic pathway. This enzyme plays a crucial role in one-carbon metabolism, catalyzing the reversible interconversion of serine and tetrahydrofolate (THF) to glycine, 5,10-methylenetetrahydrofolate, and water. This reaction is essential for the synthesis of purines, pyrimidines, and certain amino acids.

In humans, the glyA gene produces cytosolic SHMT, while mitochondrial SHMT is encoded by a separate gene. The activity of SHMT is vital for cellular growth and division, as it provides the necessary one-carbon units for nucleotide biosynthesis. Furthermore, the regeneration of THF from 5,10-methylenetetrahydrofolate is important for other folate-dependent reactions.

Mutations in the glyA gene can lead to a spectrum of neurological disorders, including serine biosynthesis defects, which are rare inborn errors of metabolism. These conditions can manifest with severe developmental delays, seizures, and movement disorders. Understanding the function of glyA is therefore important for comprehending fundamental metabolic processes and for diagnosing and potentially treating associated genetic diseases.