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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
General
aminotransferase
mitochondrial protein
Properties
SIZE: entity length = 392 aa
MW = 43 kD
COMPARTMENT: mitochondrial matrix
peroxisome
MOTIF: cofactor-binding site
COFACTOR-BOUND: pyridoxal phosphate
binding site
SITE: 360-360
FOR-BINDING-OF: Substrate
Database Correlations
OMIM correlations
MORBIDMAP 604285
UniProt P21549
Pfam PF00266
Entrez Gene 189
KEGG correlations
ENZYME correlations
References
- UniProt :accession P21549
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/AGXT