PSAT1
Chr 9ARphosphoserine aminotransferase 1
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.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PSAT1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools