PSAT1 Antibody – Mouse Monoclonal

This gene encodes a member of the class-V pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is a phosphoserine aminotransferase and decreased expression may be associated with schizophrenia. Mutations in this gene are also associated with phosphoserine aminotransferase deficiency. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, and 8. [provided by RefSeq, Jul 2013]

PSAT1: Catalyzes the reversible conversion of 3- phosphohydroxypyruvate to phosphoserine and of 3-hydroxy-2-oxo-4- phosphonooxybutanoate to phosphohydroxythreonine. Defects in PSAT1 are the cause of phosphoserine aminotransferase deficiency (PSATD). PSATD is characterized biochemically by low plasma and cerebrospinal fluid concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation. Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. SerC subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cofactor and Vitamin Metabolism - vitamin B6; EC 2.6.1.52; Amino Acid Metabolism - glycine, serine and threonine; Transferase

Chromosomal Location of Human Ortholog: 9q21.2

Cellular Component: cytoplasm; cytosol

Molecular Function: phosphoserine transaminase activity; pyridoxal phosphate binding

Biological Process: L-serine biosynthetic process; pyridoxine biosynthetic process; amino acid biosynthetic process

Disease: Phosphoserine Aminotransferase Deficiency; Neu-laxova Syndrome 2