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Literature summary for 2.6.1.5 extracted from

  • Charfeddine, C.; Monastiri, K.; Mokni, M.; Laadjimi, A.; Kaabachi, N.; Perin, O.; Nilges, M.; Kassar, S.; Keirallah, M.; Guediche, M.N.; Kamoun, M.R.; Tebib, N.; Ben Dridi, M.F.; Boubaker, S.; Ben Osman, A.; Abdelhak, S.
    Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: Identification and structural characterization of two novel TAT mutations (2006), Mol. Genet. Metab., 88, 184-191.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
C151Y missense mutation leading to defective folding and likely alteration of the enzymatic activity Homo sapiens
L273P missense mutation leading to defective folding and likely alteration of the enzymatic activity Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
cytosol
-
Homo sapiens 5829
-

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
leukocyte
-
Homo sapiens
-
liver
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
L-tyrosine + 2-oxoglutarate
-
Homo sapiens 4-hydroxyphenylpyruvate + L-glutamate
-
?

Synonyms

Synonyms Comment Organism
TATc
-
Homo sapiens
tyrosine aminotransferase
-
Homo sapiens

Cofactor

Cofactor Comment Organism Structure
pyridoxal 5'-phosphate dependent Homo sapiens