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Literature summary for 4.2.1.2 extracted from

  • Lorenzato, A.; Olivero, M.; Perro, M.; Briere, J.J.; Rustin, P.; Di Renzo, M.F.
    A cancer-predisposing "hot spot" mutation of the fumarase gene creates a dominant negative protein (2008), Int. J. Cancer, 122, 947-951.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
expressed in HK-2 cells and in skin fibroblasts Homo sapiens

Protein Variants

Protein Variants Comment Organism
E319Q mutant with strongly reduced activity Homo sapiens
I77V the mutant enzyme shows increased activity Homo sapiens
R190H almost inactive mutant, the R190H missense mutation is the most frequent in hereditary leiomyomatosis and renal cell cancer patients Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
50000
-
4 * 50000, SDS-PAGE Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
fumarate + H2O
-
Homo sapiens L-malate
-
?

Subunits

Subunits Comment Organism
homotetramer 4 * 50000, SDS-PAGE Homo sapiens

Synonyms

Synonyms Comment Organism
fumarase
-
Homo sapiens