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Literature summary for 2.6.1.44 extracted from

  • Fargue, S.; Lewin, J.; Rumsby, G.; Danpure, C.J.
    Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele (2013), J. Biol. Chem., 288, 2475-2484.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

Cloned (Comment) Organism
expressed in stably transformed CHO cells Homo sapiens

Protein Variants

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

Localization Comment Organism GeneOntology No. Textmining
peroxisome
-
Homo sapiens 5777
-

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
liver
-
Homo sapiens
-

Synonyms

Synonyms Comment Organism
alanine:glyoxylate aminotransferase
-
Homo sapiens

General Information

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