Cloned (Comment) | Organism |
---|---|
expressed in stably transformed CHO cells | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
P11L/F152I/I340M | naturally occuring mutations, mistargeted to the mitochondria, forms dimers, catlytically active | Homo sapiens |
P11L/G170R/I340M | naturally occuring mutations, creates a hidden N-terminal mitochondrial targeting sequence, the unmasking of which occurs in the hereditary calcium oxalate kidney stone disease primary hyperoxaluria type 1; this unmasking is due to the additional presence of a common disease-specific G170R mutation, forms dimers, catalytically active | Homo sapiens |
P11L/G41R/I340M | naturally occuring mutations, mistargeted to the mitochondria, catalytically inactive, aggregates | Homo sapiens |
P11L/I244T/I340M | naturally occuring mutations, mistargeted to the mitochondria, forms dimers, catlytically active | Homo sapiens |
P11L/I340M | naturally occuring mutations, encoded by the minor allele, up to 100% activity | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
peroxisome | - |
Homo sapiens | 5777 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
liver | - |
Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
alanine:glyoxylate aminotransferase | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | The hereditary kidney stone disease primary hyperoxaluria type 1 is caused by a deficiency of the peroxisomal enzyme alanine:glyoxylate aminotransferase | Homo sapiens |