The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form, differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion, where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostable class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy. [provided by RefSeq, Jul 2008].
Miettinen, Felisiak-Golabek, Wasag, Chmara, Wang, Butzow, Lasota: "Fumarase-deficient Uterine Leiomyomas: An Immunohistochemical, Molecular Genetic, and Clinicopathologic Study of 86 Cases." in: The American journal of surgical pathology, Vol. 40, Issue 12, pp. 1661-1669, (2017) (PubMed).
Burkart, Tan, Warren, Iovino, Hughes, Kahn, Patti: "Insulin Resistance in Human iPS Cells Reduces Mitochondrial Size and Function." in: Scientific reports, Vol. 6, pp. 22788, (2016) (PubMed).
Burté, De Girolamo, Hargreaves, Billett: "Alterations in the mitochondrial proteome of neuroblastoma cells in response to complex 1 inhibition." in: Journal of proteome research, Vol. 10, Issue 4, pp. 1974-86, (2011) (PubMed).
Pollard, Spencer-Dene, Shukla, Howarth, Nye, El-Bahrawy, Deheragoda, Joannou, McDonald, Martin, Igarashi, Varsani-Brown, Rosewell, Poulsom, Maxwell, Stamp, Tomlinson: "Targeted inactivation of fh1 causes proliferative renal cyst development and activation of the hypoxia pathway." in: Cancer cell, Vol. 11, Issue 4, pp. 311-9, (2007) (PubMed).