PSAT1
Function
Involved in L-serine biosynthesis via the phosphorylated pathway, a three-step pathway converting the glycolytic intermediate 3-phospho-D-glycerate into L-serine. Catalyzes the second step, that is the pyridoxal 5'-phosphate-dependent transamination of 3-phosphohydroxypyruvate and L-glutamate to O-phosphoserine (OPS) and alpha-ketoglutarate.
Involvement in disease
Phosphoserine aminotransferase deficiency
PSATD
Characterized biochemically by low plasma and cerebrospinal fluid concentrations of serine and glycine and clinically by intractable seizures, acquired microcephaly, hypertonia, and psychomotor retardation.
None
The disease is caused by variants affecting the gene represented in this entry.
Neu-Laxova syndrome 2
NLS2
A form of Neu-Laxova syndrome, a lethal, autosomal recessive multiple malformation syndrome characterized by ichthyosis, marked intrauterine growth restriction, microcephaly, short neck, limb deformities, hypoplastic lungs, edema, and central nervous system anomalies. These include lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum. Abnormal facial features include severe proptosis with ectropion, hypertelorism, micrognathia, flattened nose, and malformed ears.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Amino-acid biosynthesis; L-serine biosynthesis; L-serine from 3-phospho-D-glycerate: step 2/3.
Sequence Similarities
Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. SerC subfamily.
Tissue Specificity
Expressed at high levels in the brain, liver, kidney and pancreas, and very weakly expressed in the thymus, prostate, testis and colon.
Alternative names
PSA, PSAT1, Phosphoserine aminotransferase, Phosphohydroxythreonine aminotransferase, PSAT