Gene Symbol | AGXT |
Entrez Gene ID | 189 |
Full Name | alanine-glyoxylate aminotransferase |
Synonyms | AGT,AGT1,AGXT1,PH1,SPAT,SPT,TLH6 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Hyperoxaluria, primary, type 1, 259900 (3) |