FH Gene
Overview
flowchart TD
FH["FH"] -->|"causes"| Kidney_Cancer["Kidney Cancer"]
FH["FH"] -->|"interacts with"| LDLR["LDLR"]
FH["FH"] -->|"associated with"| LDLR["LDLR"]
FH["FH"] -->|"causes"| LDLR["LDLR"]
FH["FH"] -->|"associated with"| GBA1["GBA1"]
FH["FH"] -->|"associated with"| LRRK2["LRRK2"]
FH["FH"] -->|"associated with"| PINK1["PINK1"]
FH["FH"] -->|"associated with"| PRKN["PRKN"]
FH["FH"] -->|"associated with"| SNCA["SNCA"]
FH["FH"] -->|"associated with"| P300["P300"]
FH["FH"] -->|"expressed in"| endothelial_cells["endothelial cells"]
FH["FH"] -->|"activates"| PTX3["PTX3"]
FH["FH"] -->|"participates in"| oxidative_stress_response["oxidative stress response"]
FH["FH"] -->|"participates in"| pyroptosis["pyroptosis"]
style FH fill:#4fc3f7,stroke:#333,color:#000
Fh Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Introduction
Fh Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [@fumarate2018]
<div class="infobox infobox-gene"> [@sudarshan2015]
FH [@eng2013]
...FH Gene
Overview
Mermaid diagram (expand to render)
Fh Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Introduction
Fh Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [@fumarate2018]
<div class="infobox infobox-gene"> [@sudarshan2015]
FH [@eng2013]
| | | [@tomlinson2002]
|---|---| [@launonen2001]
|
Symbol | FH | [@bayley2008]
|
Full Name | Fumarate Hydratase | [@kwong2010]
|
Chromosome | 1q43 |
|
NCBI Gene ID | [2250](https://www.ncbi.nlm.nih.gov/gene/2250) |
|
OMIM | [136850](https://www.omim.org/entry/136850) |
|
Ensembl ID | [ENSG00000091426](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000091426) |
|
UniProt ID | [P07954](https://www.uniprot.org/uniprot/P07954) |
|
Encoded Protein | [Fumarate Hydratase Protein](/proteins/fh-protein) |
|
Associated Diseases | [Hereditary Leiomyomatosis and Renal Cell Cancer](/diseases/hlrcc), [Fumarate Accumulation](/diseases/fumarate-accumulation), [Mitochondrial Dysfunction](/mechanisms/mitochondrial-dysfunction) |
</div>
Function
The FH gene encodes Fumarate Hydratase Protein, a protein involved in various cellular processes relevant to neuronal function and survival. This gene is implicated in the pathogenesis of several neurodegenerative diseases.
Disease Associations
| Disease | Inheritance | Key Mutations |
|---------|-------------|---------------|
| Hereditary Leiomyomatosis and Renal Cell Cancer | Various | Pathogenic variants |
| Fumarate Accumulation | Various | Pathogenic variants |
| Mitochondrial Dysfunction | Various | Pathogenic variants |
Expression
FH is expressed in various brain regions, with notable expression in:
- Cerebral [cortex](/brain-regions/cortex)
- [Hippocampus](/brain-regions/hippocampus)
- Basal ganglia
- [Cerebellum](/brain-regions/cerebellum)
Expression data is available from the [Allen Human Brain Atlas](https://human.brain-map.org/microarray/search/show?search_term=FH).
Key Publications
[NCBI Gene Entry](https://www.ncbi.nlm.nih.gov/gene/2250)
[UniProt Entry](https://www.uniprot.org/uniprot/P07954)Overview
Fh Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Background
The study of Fh Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
See Also
- [/mechanisms/mitochondrial-dysfunction-ad](/mechanisms/mitochondrial-dysfunction-ad)
- [ROS](/entities/ros)
- [/mechanisms/genetics](/mechanisms/genetics)
- [/mechanisms/apoe4-alzheimers](/mechanisms/apoe4-alzheimers)
- [/diseases](/diseases)
External Links
- [PubMed](https://pubmed.ncbi.nlm.nih.gov/) - Biomedical literature
- [Alzheimer's Disease Neuroimaging Initiative](https://adni.loni.usc.edu/) - Research data
- [Allen Brain Atlas](https://brain-map.org/) - Brain gene expression data
Cross-Links
- [Protein: Fumarate Hydratase Protein](/genes/ar)
- [Hereditary Leiomyomatosis and Renal Cell Cancer, Fumarate Accumulation, Mitochondrial Dysfunction](/genes/ar)
References
[Adam J, Yang M, Soga T, Pollard PJ, "Succinate: an oncometabolite in renal cancer." Nature Reviews Urology (2014)](https://doi.org/10.1038/nrurol.2014.150)
[Unknown, Fumarate Hydratase Deficiency. "Clinical and genetic aspects." Human Molecular Genetics. 2018;27(R2):R156-R164 (2018)](https://doi.org/10.1093/hmg/ddy161)
Sudarshan S, Linehan WM, Zbar B, Schmidt LS, "Fumarate hydratase deficiency in renal cancer." Journal of Renal Cancer (2015)
[Eng C, Kiuru M, Fernandez MJ, Aaltonen LA, "A role for mitochondrial enzymes in inherited neoplasia." Nature Reviews Cancer (2013)](https://doi.org/10.1038/nrc1015)
[Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Latchford A, Brannigan BW, Hodgson S, Maher ER, Browstein BH, Sampson JR, "Germline mutations in FH predispose to cutaneous leiomyomas and renal cell cancer." Nature Genetics (2002)](https://doi.org/10.1038/ng849)
[Launonen V, Vierimaa O, Kiuru M, Isola J, Roth S, Pukkala E, Sistonen P, Herva R, Aaltonen LA, "Inherited susceptibility to uterine leiomyomas and renal cell cancer." Proceedings of the National Academy of Sciences (2001)](https://doi.org/10.1073/pnas.051633798)
[Bayley JP, Launonen V, Tomlinson IP, "The FH mutation database: an online database of fumarate hydratase mutations involved in HLRCC and FH deficiency." Human Mutation (2008)](https://doi.org/10.1002/humu.20671)
[Kwong JS, Au-Yeung M, Yeung CY, Lam HS, "Fumarate hydratase deficiency: a mitochondrial encephalomyopathy." Journal of Inherited Metabolic Disease (2010)](https://doi.org/10.1007/s10545-010-9170-0)