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- Table of Contents
Facts about Fumarate hydratase, mitochondrial.
| Human | |
|---|---|
| Gene Name: | FH |
| Uniprot: | P07954 |
| Entrez: | 2271 |

| Belongs to: |
|---|
| class-II fumarase/aspartase family |

EC 4.2.1.2; fumarase; fumarate hydratase; fumarate hydratase, mitochondrial; HLRCC; LRCC; MCL; MCUL1
Mass (kDA):
54.637 kDA

| Human | |
|---|---|
| Location: | 1q43 |
| Sequence: | 1; NC_000001.11 (241497603..241519755, complement) |
Expressed in red blood cells; underexpressed in red blood cells (cytoplasm) of patients with hereditary non- spherocytic hemolytic anemia of unknown etiology.
[Isoform Mitochondrial]: Mitochondrion.; [Isoform Cytoplasmic]: Cytoplasm, cytosol. Nucleus. Chromosome. Translocates to the nucleus in response to DNA damage: localizes to DNA double-strand breaks (DSBs) following phosphorylation by PRKDC.






PMID: 3828494 by Kinsella B.T., et al. Nucleotide sequence of a cDNA coding for mitochondrial fumarase from human liver.
PMID: 27037871 by Dik E., et al. Human fumarate hydratase is dual localized by an alternative transcription initiation mechanism.