PSAT1
Description
The PSAT1 (phosphoserine aminotransferase 1) is a protein-coding gene located on chromosome 9.
PSAT1, also known as phosphoserine aminotransferase, is a human enzyme encoded by the PSAT1 gene. This enzyme is involved in L-serine biosynthesis through the phosphorylated pathway. The protein encoded by PSAT1 is likely a phosphoserine aminotransferase based on its similarity to proteins found in mouse, rabbit, and Drosophila. Two transcript variants encoding different isoforms are produced through alternative splicing of the gene. Mutations in PSAT1 are linked to Neu-Laxova syndrome and phosphoserine aminotransferase deficiency.
PSAT1 is involved in the biosynthesis of L-serine through the phosphorylated pathway. This pathway consists of three steps, starting with the glycolytic intermediate 3-phospho-D-glycerate and ending with the production of L-serine. PSAT1 catalyzes the second step of this pathway, which involves the pyridoxal 5'-phosphate-dependent transamination of 3-phosphohydroxypyruvate and L-glutamate to produce O-phosphoserine (OPS) and alpha-ketoglutarate.
PSAT1 is also known as EPIP, NLS2, PSA, PSAT, PSATD.
Associated Diseases
- Neu-Laxova syndrome 2
- Phosphoserine aminotransferase deficiency, infantile/juvenile form
- Phosphoserine aminotransferase deficiency
