background:
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]
Function:
Also acts as a tumor suppressor.
Subunit:
Homotetramer.
Subcellular Location:
Cytoplasm, Mitochondrion
Tissue Specificity:
Expressed in red blood cells; underexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology.
DISEASE:
Fumarase deficiency (FMRD): The disease is caused by mutations affecting the gene represented in this entry. A severe autosomal recessive metabolic disorder characterized by early-onset hypotonia, profound psychomotor retardation, and brain abnormalities, such as agenesis of the corpus callosum, gyral defects, and ventriculomegaly. Many patients show neonatal distress, metabolic acidosis, and/or encephalopathy.
Hereditary leiomyomatosis and renal cell cancer (HLRCC): The disease is caused by mutations affecting the gene represented in this entry. A disorder characterized by predisposition to cutaneous and uterine leiomyomas, and papillary type 2 renal cancer which occurs in about 20% of patients.
Similarity:
Belongs to the class-II fumarase/aspartase family. Fumarase subfamily.
Database links:
Entrez Gene: 520260 Cow
Entrez Gene: 96092 Dog
Entrez Gene: 2271 Human
Entrez Gene: 14194 Mouse
Entrez Gene: 100627128 Pig
Entrez Gene: 24368 Rat
Entrez Gene: 393938 Zebrafish
Omim: 136850 Human
SwissProt: P07954 Human
SwissProt: P97807 Mouse
SwissProt: P10173 Pig
SwissProt: P1888 Rat
SwissProt: Q7SX99 Zebrafish
Unigene: 592490 Human
Unigene: 41502 Mouse
Unigene: 29782 Rat
Unigene: 104452 Zebrafish
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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