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FH (NM_000143) - fumarate hydratase

Fumarate Hydratase, Mitochondrial

PTM Interaction Network Visualisation

Protein summary

This is preferred isoform of FH protein.
FH: fumarate hydratase, mitochondrial
Description:

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].

Publication Note:
This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.

Evidence data:
Transcript exon combination :: U59309.1, BC003108.1 [ECO:0000332]

##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000366560.4/ ENSP00000355518.4 RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END##

Strand
-
Chromosome
1
Protein
510 residues
All mutations
432
PTM sites
32
CDS
241,661,127 - 241,683,022
Transcription
241,660,856 - 241,683,085
10.0% of sequence is predicted to be disordered

Usage summary

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 2271
UniProt
Ensembl