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FH fumarate hydratase

Gene ID: 2271, updated on 5-Jan-2022
Gene type: protein coding
Also known as: MCL; FMRD; HsFH; LRCC; HLRCC; MCUL1

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]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-07-06)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-07-06)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
1q43
Sequence:
Chromosome: 1; NC_000001.11 (241497603..241519755, complement)
Total number of exons:
10

Links

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