Literature summary for 4.2.1.2 extracted from

Pithukpakorn, M.; Wei, M.H.; Toure, O.; Steinbach, P.J.; Glenn, G.M.; Zbar, B.; Linehan, W.M.; Toro, J.R.
Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer (2006), J. Med. Genet., 43, 755-762.

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Application

Application	Comment	Organism
analysis	fumarate hydratase activity can be useful in the diagnosis of hereditary leiomyomatosis and renal cell cancer in cases with atypical presentation and undetectable fumarate hydratase mutations. Furthermore, fumarate hydratase activity testing is of value in laboratory investigations to elucidate the mechanism of hereditary leiomyomatosis and renal cell cancer	Homo sapiens
medicine	fumarate hydratase activity can be useful in the diagnosis of hereditary leiomyomatosis and renal cell cancer in cases with atypical presentation and undetectable fumarate hydratase mutations. Furthermore, fumarate hydratase activity testing is of value in laboratory investigations to elucidate the mechanism of hereditary leiomyomatosis and renal cell cancer	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
cytosol	-	Homo sapiens	5829	-
mitochondrion	-	Homo sapiens	5739	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
fibroblast cell line	cells from individuals with hereditary leiomyomatosis and renal cell cancer have lower fumarate hydratase enzyme activity than cells from normal controls	Homo sapiens	-
lymphoblastoid cell line	cells from individuals with hereditary leiomyomatosis and renal cell cancer have lower fumarate hydratase enzyme activity than cells from normal controls	Homo sapiens	-

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Release 2023.1 (January 2023)