| Name | fumarate hydratase |
| Symbol | FH |
| Aliases | MCL; LRCC; HLRCC; MCUL1; FUMARASE; fumarase; Leiomyomatosis and renal cell cancer; Multiple hereditary cutaneous leiomyomata |
| Gene Product | - fumarate hydratase precursor
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| Category | |
| UniGene |
Hs.391168
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| Reference Sequence |
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| OMIM and SNP |
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| Locus |
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| Summary | 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. |
| Expression | | EST (461 ESTs, 163 libraries) |
| Tissue | Breadth ? |
CPM ? |
| adipose |  | | | blood | | | | bone | | | | bone marrow | | | | brain | | | | cartilage | | | | cervix | | | | colon | | | | embryo | | | | eye | | | | germ cell | | | | head and neck | | | | heart | | | | kidney |  | | | liver | | | | lung | | | | lymph node | | | | mammary gland | | | | muscle | | | | nervous | | | | ovary | | | | pancreas | | | | parathyroid | | | | pineal gland | | | | placenta | | | | prostate | | | | skin | | | | stomach | | | | testis | | | | uncharacterized tissue | | | | uterus | | | | vascular | | | | whole body | | |
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| Evidence | Mutation in Kidney Neoplasms
- Kiuru M, Lehtonen R, Arola J, Salovaara R, Jarvinen H, Aittomaki K, Sjoberg J, Visakorpi T, Knuutila S, Isola J, Delahunt B, Herva R, Launonen V, Karhu A, Aaltonen LA Few FH mutations in sporadic counterparts of tumor types observed inhereditary leiomyomatosis and renal cell cancer families. Cancer Res 2002 Aug 15;62(16):4554-7.
Other key publications related to this gene
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