Species Human Entrez 29968 | Human Mouse Ensembl ENSG00000135069 | |
Aliases PSAT1, EPIP, PSA, PSAT, NLS2, PSATD, phosphoserine aminotransferase 1 External IDs MGI: 2183441 HomoloGene: 6973 GeneCards: PSAT1 | ||
Phosphoserine aminotransferase (PSA) also known as phosphohydroxythreonine aminotransferase (PSAT) is an enzyme that in humans is encoded by the PSAT1 gene.
Contents
The protein encoded by this gene is likely a phosphoserine aminotransferase, based on similarity to proteins in mouse, rabbit, and Drosophila. Alternative splicing of this gene results in two transcript variants encoding different isoforms.
Clinical significance
Homozygous or compound heterozygous mutations in PSAT1 cause Neu-Laxova syndrome and phosphoserine aminotransferase deficiency.
Model organisms
Model organisms have been used in the study of PSAT1 function. A conditional knockout mouse line, called Psat1tm1a(KOMP)Wtsi was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty four tests were carried out on mutant mice and two significant abnormalities were observed. No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; no additional significant abnormalities were observed in these animals.