PSAT1

Phosphoserine aminotransferase (PSA) also known as phosphohydroxythreonine aminotransferase (PSAT) is an enzyme that in humans is encoded by the PSAT1 gene.

The protein encoded by this gene is likely a phosphoserine aminotransferase, based on similarity to proteins in mouse, rabbit, and Drosophila. Alternative splicing of this gene results in two transcript variants encoding different isoforms.

Clinical significance
Homozygous or compound heterozygous mutations in PSAT1 cause Neu–Laxova syndrome and phosphoserine aminotransferase deficiency.