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Literature summary for 2.6.1.44 extracted from

  • Coulter-Mackie, M.B.; Lian, Q.
    Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants (2008), Mol. Genet. Metab., 94, 368-374.
    View publication on PubMed

Activating Compound

Activating Compound Comment Organism Structure
aminooxyacetic acid for some enzyme mutants, sensitivity to trypsin can be ameliorated by addition of pyridoxal 5'-phosphate or aminooxyacetic acid Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
expression in Escherichia coli Homo sapiens

Protein Variants

Protein Variants Comment Organism
F52I natural mutation in enzyme major allele, 13% of the activity of major allele Homo sapiens
F52I natural mutation in enzyme minor allele, 14% of the activity of minor allele Homo sapiens
G41R natural mutation in enzyme major allele, 46.5% of the activity of major allele Homo sapiens
G41R natural mutation in enzyme minor allele, 23.7% of the activity of minor allele Homo sapiens
R233C natural mutation in enzyme major allele, 21% of the activity of major allele Homo sapiens
R233C natural mutation in enzyme minor allele, below 5% of the activity of minor allele Homo sapiens
V336D natural mutation in enzyme major allele, 22.4% of the activity of major allele Homo sapiens
V336D natural mutation in enzyme minor allele, 5.2% of the activity of minor allele Homo sapiens

General Stability

General Stability Organism
partial digestion by trypsin provides an indicator of proper folding of the enzyme, while for some mutants, sensitivity to trypsin can be ameliorated by addition of pyridoxal 5'-phosphate or aminooxyacetic acid Homo sapiens
partial trypsin digestion provides an indicator of proper folding of the mutant enzyme. For selected mutations the sensitivity to trypsin can be ameliorated by addition of pyridoxal phosphate or aminooxy acetic acid as specific pharmacological chaperones Homo sapiens

Localization

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

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
43000
-
x * 43000, SDS-PAGE Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
liver
-
Homo sapiens
-

Subunits

Subunits Comment Organism
? x * 43000, SDS-PAGE Homo sapiens
More analysis of wild-type and mutants after partial digestions using trypsin. Partial digestion by trypsin provides an indicator of proper folding of the enzyme, while for some mutants, sensitivity to trypsin can be ameliorated by addition of pyridoxal 5'-phosphate or aminooxyacetic acid Homo sapiens

Synonyms

Synonyms Comment Organism
alanine:glyoxylate aminotransferase
-
Homo sapiens

Cofactor

Cofactor Comment Organism Structure
pyridoxal 5'-phosphate for some mutants, sensitivity to trypsin can be ameliorated by addition of pyridoxal 5'-phosphate or aminooxyacetic acid Homo sapiens