The FH gene homepage
| General information |
| Gene symbol |
FH |
| Gene name |
fumarate hydratase |
| Chromosome |
1 |
| Chromosomal band |
q42.1 |
| Imprinted |
- |
| Genomic reference |
NG_012338.1 |
| Transcript reference |
NM_000143.3 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
198 |
| Unique public DNA variants reported |
132 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
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]
Also known as: MCL; LRCC; HLRCC; MCUL1 |
| Date created |
April 19, 2013 |
Active transcripts
| Copyright & disclaimer |
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