Overview

Location [1]
1q43
Pathway
Metabolic signaling
Synonyms [1]
MCUL1, HsFH, MCL, LRCC, HLRCC, FMRD

Fumarate hydratase (FH) is a gene that encodes a protein that functions as an enzyme in the TCA cycle. The protein catalyzes the synthesis of L-malate from fumarate. Missense mutations, nonsense mutations, and silent mutations are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

Clinical Trials

Significance of FH in Diseases

Renal Cell Carcinoma +

Hereditary Leiomyomatosis And Renal Cell Cancer +

Gastrointestinal Stromal Tumor +

Papillary Renal Cell Carcinoma +

Breast Carcinoma +

Clear Cell Renal Cell Carcinoma +

Malignant Solid Tumor +

Non-Small Cell Lung Carcinoma +

Paraganglioma +

Peritoneal Mesothelioma +

Pleural Mesothelioma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.