PSAT1

Phosphoserine aminotransferase (PSA) also known as phosphohydroxythreonine aminotransferase (PSAT) is an is_associated_with::enzyme that in humans is encoded by the PSAT1 is_associated_with::gene.

The protein encoded by this gene is likely a is_associated_with::phosphoserine is_associated_with::aminotransferase, based on similarity to proteins in mouse, rabbit, and is_associated_with::Drosophila. is_associated_with::Alternative splicing of this gene results in two transcript variants encoding different is_associated_with::isoforms.

Clinical significance
Homozygous or compound heterozygous mutations in PSAT1 cause is_associated_with::Neu-Laxova syndrome and phosphoserine aminotransferase deficiency.

Model organisms
is_associated_with::Model organisms have been used in the study of PSAT1 function. A conditional is_associated_with::knockout mouse line, called Psat1tm1a(KOMP)Wtsi was generated as part of the is_associated_with::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 is_associated_with::phenotypic screen to determine the effects of deletion. Twenty four tests were carried out on is_associated_with::mutant mice and two significant abnormalities were observed. No is_associated_with::homozygous is_associated_with::mutant embryos were identified during gestation, and therefore none survived until is_associated_with::weaning. The remaining tests were carried out on is_associated_with::heterozygous mutant adult mice; no additional significant abnormalities were observed in these animals.