Phosphoserine Aminotransferase 1

Alternative Names

  • PSAT1
  • PSAT
  • Endometrial Progesterone-Induced Protein
  • EPIP

Associated Diseases

Neu-Laxova Syndrome 2
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OMIM Number

610936

NCBI Gene ID

29968

Uniprot ID

Q9Y617

Length

33,019 bases

No. of Exons

9

No. of isoforms

2

Protein Name

Phosphoserine aminotransferase

Molecular Mass

40423 Da

Amino Acid Count

370

Genomic Location

chr9:78,297,075-78,330,093

Gene Map Locus
9q21.2

Description

The PSAT1 gene encodes an enzyme that is involved in the synthesis of the L-serine amino acid.  The phosphoserine aminotransferase enzyme catalyzes the second step in the 3-step serine biosynthesis pathway, the conversion of 3-phosphohydroxypyruvate into 3-phosphoserine.  As an amino acid, serine is required for protein synthesis.  It is also a precursor to compounds such as sphingomyelin and cysteine and neuromodulators such as glycine.  Hence, any defects in the serine biosynthesis pathway can have strong pathological consequences.

Mutations in PSAT1 result in Neu-Laxova syndrome 2 (NLS2), a severe fatal disorder characterized by ichthyosis, microcephaly, intra-uterine growth retardation, nervous system abnormalities, limb deformities, edema, and facial dysmorphia.  The gene is also associated with Phosphoserine Aminotransferase Deficiency (PSATD), a less severe phenotype characterized by congenital microcephaly, hypertonia, psychomotor retardation, and seizures.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_058179.4:c.296C>TEgypt; LebanonNC_000009.12:g.78304839C>TLikely PathogenicPathogenicNeu-Laxova Syndrome 2 NG_012165.1:g.12697C>T; NM_058179.4:c.296C>T; NP_478059.1:p.Ala99Val587777778156364
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