fumarate hydratase, mitochondrial [Homo sapiens]

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Protein 3D Structure

Human fumarase (wild type)

PDB: 5D6B

Source: Homo sapiens

Method: X-ray Diffraction

Resolution: 2.1 Å

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Articles about the FH gene

Genomic profile analysis of leiomyomas with bizarre nuclei and fumarate hydratase deficient leiomyomas: Strengths, weaknesses, and limitations of array-CGH interpretation. [Genes Chromosomes Cancer. 2024]
Genomic profile analysis of leiomyomas with bizarre nuclei and fumarate hydratase deficient leiomyomas: Strengths, weaknesses, and limitations of array-CGH interpretation.
Fontanges Q, Dubos P, Lesluyes T, Laizet Y, Velasco V, Meléndez B, D'Haene N, Oliva E, Young RH, Mayeur L, et al. Genes Chromosomes Cancer. 2024 Mar; 63(3):e23229.
Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer. [Hum Mol Genet. 2023]
Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer.
Crooks DR, Cawthon GM, Fitzsimmons CM, Perez M, Ricketts CJ, Vocke CD, Yang Y, Middelton L, Nielsen D, Schmidt LS, et al. Hum Mol Genet. 2023 Nov 3; 32(22):3135-3145.
In deep bioinformatic characterization of a novel fumarate hydratase variant FH c.199T > G; (p.Tyr67Asp) in hereditary leiomyomatosis and renal cell carcinoma. [Fam Cancer. 2023]
In deep bioinformatic characterization of a novel fumarate hydratase variant FH c.199T > G; (p.Tyr67Asp) in hereditary leiomyomatosis and renal cell carcinoma.
Chami A, de Souza Zózimo TR, Alves TM, Matosinho CGR, Santos C, Simões MM, Cabral WLR, de Paula Ricardo BF, da Silva Filho AL, Carvalho MRS, et al. Fam Cancer. 2023 Oct; 22(4):481-486. Epub 2023 Jun 15.

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Reference sequence information

RefSeq genomic sequence
See the genomic reference sequence for the FH gene (NG_012338.1).
RefSeq mRNA
See reference mRNA sequence for the FH gene (NM_000143.4).

More about the FH gene

The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formatio...
Also Known As: FMRD, HLRCC, HsFH, LRCC...

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LinkOut to external resources

NP_000134 [Domain Mapping of Disease Mut...]
NP_000134
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
Find Quality Antibodies [GeneTex Inc]
Find Quality Antibodies
GeneTex Inc
Evolutionary Trace of Functional Site [Evolutionary Trace of Functio...]
Evolutionary Trace of Functional Site