FH

GENE INFORMATION

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Gene name

FH (HGNC Symbol)

Synonyms

fumarase

Description

fumarate hydratase (HGNC Symbol)

Entrez gene 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. [provided by RefSeq, Jul 2008]

Chromosome

1 (Chromosome progress)

Cytoband

q43

Chromosome location (bp)

241660903 - 241683061

Ensembl

ENSG00000091483 (version 73.37)

Entrez gene

2271

UniProt

P07954 (UniProt - Evidence at protein level)

neXtProt

NX_P07954

Antibodypedia

FH antibodies
 

PROTEIN VIEW

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FH-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

FH-001 ENSP00000355518
ENST00000366560
P07954
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