Biology:PSAT1

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Phosphoserine aminotransferase (PSA) also known as phosphohydroxythreonine aminotransferase (PSAT) is an enzyme that in humans is encoded by the PSAT1 gene.[1]

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.[1]

Clinical significance

Homozygous or compound heterozygous mutations in PSAT1 cause Neu–Laxova syndrome[2] and phosphoserine aminotransferase deficiency.[3]

See also

References

Further reading

External links

  • Overview of all the structural information available in the PDB for UniProt: Q9Y617 (Phosphoserine aminotransferase) at the PDBe-KB.