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.
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. [1]
FH [2]
| | | [3]
|---|---| [4]
| Symbol | FH | [5]
| Full Name | Fumarate Hydratase | [6]
| Chromosome | 1q43 |
| NCBI Gene ID | 2250 |
| OMIM | 136850 |
| Ensembl ID | ENSG00000091426 |
| UniProt ID | P07954 |
| Encoded Protein | Fumarate Hydratase Protein |
| Associated Diseases | Hereditary Leiomyomatosis and Renal Cell Cancer, Fumarate Accumulation, Mitochondrial Dysfunction |
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 | Inheritance | Key Mutations |
|---|---|---|
| Hereditary Leiomyomatosis and Renal Cell Cancer | Various | Pathogenic variants |
| Fumarate Accumulation | Various | Pathogenic variants |
| Mitochondrial Dysfunction | Various | Pathogenic variants |
FH is expressed in various brain regions, with notable expression in:
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.
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.
Fumarate Hydratase Deficiency. "Clinical and genetic aspects." Human Molecular Genetics. 2018;27(R2):R156-R164. Human Molecular Genetics. 2018. ↩︎
Eng C, Kiuru M, Fernandez MJ, Aaltonen LA. "A role for mitochondrial enzymes in inherited neoplasia." Nature Reviews Cancer. Nature Reviews Cancer. 2013. ↩︎
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. Nature Genetics. 2002. ↩︎
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. Proceedings of the National Academy of Sciences. 2001. ↩︎
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. Human Mutation. 2008. ↩︎
Kwong JS, Au-Yeung M, Yeung CY, Lam HS. "Fumarate hydratase deficiency: a mitochondrial encephalomyopathy." Journal of Inherited Metabolic Disease. Journal of Inherited Metabolic Disease. 2010. ↩︎