Fumarate Hydratase, Mitochondrial

Preferred Label : Fumarate Hydratase, Mitochondrial;

NCIt synonyms : Fumarase; EC 4.2.1.2; FH; HsFH;

NCIt definition : Fumarate hydratase, mitochondrial (510 aa, 55 kDa) is encoded by the human FH gene. This protein plays a role in the meditation of the citric acid cycle.;

Details

Origin ID

C95270;

UMLS CUI

C1850941;

Currated CISMeF NLP mapping
- Fumarase [LOINC component]
OMIM relation
- Fumarate hydratase [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Enzyme Gene [NCIt concept]
- FH Gene [NCIt concept]
- Lyase Gene [NCIt concept]
gene_product_has_associated_anatomy
- Mitochondrion [NCIt concept]
gene_product_has_structural_domain_or_motif
- Substrate Interaction Domain [NCIt concept]
gene_product_is_element_in_pathway
- Citrate Cycle (TCA Cycle) Pathway [NCIt concept]
- Renal Cell Carcinoma Pathway [NCIt concept]
- The Citric Acid Cycle [NCIt concept]
gene_product_malfunction_associated_with_disease
- Hereditary Leiomyomatosis and Renal Cell Carcinoma [NCIt concept]
gene_product_plays_role_in_biological_process
- Cell Respiration [NCIt concept]
- Tumor Suppression [NCIt concept]

Keyword's position in hierarchy(ies) :

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