Aliases for PSAT1 Gene
External Ids for PSAT1 Gene
Previous GeneCards Identifiers for PSAT1 Gene
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]
GeneCards Summary for PSAT1 Gene
PSAT1 (Phosphoserine Aminotransferase 1) is a Protein Coding gene. Diseases associated with PSAT1 include Phosphoserine Aminotransferase Deficiency and Neu-Laxova Syndrome 2. Among its related pathways are Carbon metabolism and Amino acid synthesis and interconversion (transamination). Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and O-phospho-L-serine:2-oxoglutarate aminotransferase activity. An important paralog of this gene is AGXT.
UniProtKB/Swiss-Prot Summary for PSAT1 Gene
Catalyzes the reversible conversion of 3-phosphohydroxypyruvate to phosphoserine and of 3-hydroxy-2-oxo-4-phosphonooxybutanoate to phosphohydroxythreonine.