Serine—pyruvate aminotransferase is an
enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different molecule ...
that in humans is encoded by the ''AGXT''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
This gene is expressed only in the liver and the encoded protein is localized mostly in the
peroxisome
A peroxisome () is a membrane-bound organelle, a type of microbody, found in the cytoplasm of virtually all eukaryotic cells. Peroxisomes are oxidative organelles. Frequently, molecular oxygen serves as a co-substrate, from which hydrogen ...
s, where it is involved in
glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targeting, have been associated with
type I primary hyperoxaluria.
See also
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Peroxisomal disorder
References
External links
GeneReviews/NIH/NCBI/UW entry on Primary Hyperoxaluria Type 1*
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Further reading
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