PSAT1

Chr 9

phosphoserine aminotransferase 1

Also known as: EPIP, NLS2, PSA, PSAT, PSATD

NCBI Gene: 29968 ENSG00000135069 UniProt: Q9Y617

This gene encodes phosphoserine aminotransferase, which catalyzes the second step of L-serine biosynthesis by converting 3-phosphohydroxypyruvate and L-glutamate to O-phosphoserine and alpha-ketoglutarate. Biallelic mutations cause phosphoserine aminotransferase deficiency and Neu-Laxova syndrome 2 with autosomal recessive inheritance. The gene is not highly constrained against loss-of-function variants, consistent with the recessive inheritance pattern of associated disorders.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPhosphoserine aminotransferase deficiency

UniProtNeu-Laxova syndrome 2

Clinical highlights

Gene-disease validity (ClinGen)

neurometabolic disorder due to serine deficiency · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.27

LOEUF

LOF

Mechanism· G2P

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GeneReview available — PSAT1