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Gene : FH Homo sapiens

Name  ? fumarate hydratase Cytological Location  1q43
Brief Description  fumarate hydratase
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]
  • synonyms:
  • NM_000143,
  • HGNC:3700,
  • MCUL1,
  • fumarase,
  • HsFH,
  • FH,
  • LRCC,
  • BC003108,
  • OTTHUMG00000039597,
  • MCL,
  • HLRCC,
  • uc001hyx.4,
  • FMRD
  • identifiers:
  • 2271,
  • ENSG00000091483,
  • FH

Genome feature

Region: gene ? Length: 22153  
Location: 1:241497603-241519755 reverse strand Cyto location: 1q43


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Proteins

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SNPs

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Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Expression

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Other

73 SN Ps

5 Cross References

19 Data Sets

9 Homologues

0 Located Features

97 Rna Seq Results