serine-pyruvate aminotransferase; SPT; alanine-glyoxylate aminotransferase; AGT (AGXT, AGT1 SPAT)

Function

L-serine + pyruvate = 3-hydroxypyruvate + L-alanine

L-alanine + glyoxylate = pyruvate + glycine

Cofactor: pyridoxal phosphate

Structure

• homodimer
• belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family

Compartment

• peroxisome
• mitochondrial matrix (primary hyperoxaluria type-1)

Expression

liver

Pathology

• defects in AGXT are the cause of primary hyperoxaluria type-1

Polymorphism

• polymorphism at position 11 acts synergistically with different mutations in AGXT producing specific enzymic phenotypes in patients with primary hyperoxaluria
• combined presence of Leu-11 & Met-340 polymorphisms defines the minor AGXT allele, whereas their absence defines the major allele.
• the minor allele has frequencies of 20% in normal European & North American populations, & 50% in patients with primary hyperoxaluria

More general terms

• aminotransferase
• mitochondrial protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=189
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:189
• OMIM: https://mirror.omim.org/entry/259900
• OMIM: https://mirror.omim.org/entry/604285
• UniProt: http://www.uniprot.org/uniprot/P21549.html