Sdhc 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
Sdhc 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. [@sun2015]
| | | [@letouze2013] |---|---| [@williamson2019] | Symbol | SDHC | [@van2020] | Full Name | Succinate Dehydrogenase Complex Subunit C | | Chromosome | 1q23.3 | | NCBI Gene ID | [6391](https://www.ncbi.nlm.nih.gov/gene/6391) | | OMIM | [605360](https://www.omim.org/entry/605360) | | Ensembl ID | [ENSG00000143252](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143252) | | UniProt ID | [O75347](https://www.uniprot.org/uniprot/O75347) | | Encoded Protein | [SDHC Protein](/proteins/sdhc-protein) | | Associated Diseases | [Pheochromocytoma](/diseases/pheochromocytoma), [Paraganglioma](/diseases/paraganglioma), [Mitochondrial Complex II Deficiency](/diseases/mitochondrial-complex-ii-deficiency) |
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Function
The SDHC gene encodes SDHC 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.
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SDHC Gene
Overview
Sdhc 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
Sdhc 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. [@sun2015]
| | | [@letouze2013] |---|---| [@williamson2019] | Symbol | SDHC | [@van2020] | Full Name | Succinate Dehydrogenase Complex Subunit C | | Chromosome | 1q23.3 | | NCBI Gene ID | [6391](https://www.ncbi.nlm.nih.gov/gene/6391) | | OMIM | [605360](https://www.omim.org/entry/605360) | | Ensembl ID | [ENSG00000143252](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143252) | | UniProt ID | [O75347](https://www.uniprot.org/uniprot/O75347) | | Encoded Protein | [SDHC Protein](/proteins/sdhc-protein) | | Associated Diseases | [Pheochromocytoma](/diseases/pheochromocytoma), [Paraganglioma](/diseases/paraganglioma), [Mitochondrial Complex II Deficiency](/diseases/mitochondrial-complex-ii-deficiency) |
</div>
Function
The SDHC gene encodes SDHC 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 | |---------|-------------|---------------| | Pheochromocytoma | Various | Pathogenic variants | | Paraganglioma | Various | Pathogenic variants | | Mitochondrial Complex II Deficiency | Various | Pathogenic variants |
Expression
SDHC 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=SDHC).
Sdhc 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 Sdhc 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.
[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: SDHC Protein](/genes/sdhc)
[Pheochromocytoma, Paraganglioma, Mitochondrial Complex II Deficiency](/genes/ar)
References
[Bezawork-Geleta A, Rohlena J, Dong L, Neuzil J, "SDH assembly, regulation and therapeutic targeting." Trends in Biochemical Sciences (2017)](https://doi.org/10.1016/j.tibs.2017.06.004)
[Sun F, Huo X, Zhai Y, Wang A, Xu J, Su D, Bartlam M, Rao Z, "Crystal structure of mitochondrial respiratory membrane protein complex II." Cell (2015)](https://doi.org/10.1016/j.cell.2015.05.004)
[Bardella C, Pollard PJ, Tomlinson I, "SDH mutations in cancer." Biochimica et Biophysica Acta (2018)](https://doi.org/10.1016/j.bbabio.2015.11.004)
[Letouze E, Martinelli C, Loriot C, Burnichon N, Abermil N, Ott C, Vescovo L, Jean-Joseph Y, Parfait B, Bertherat J, Couvelard A, Risch A, Amlou L, De Reynies A, Favier J, "SDH mutations establish a hypermethylator phenotype in paraganglioma." Cancer Cell (2013)](https://doi.org/10.1016/j.ccr.2013.04.018)
[Williamson J, Scott RJ, Tolmie J, "Mitochondrial complex II deficiency and neurological disease." Brain (2019)](https://doi.org/10.1093/brain/awy307)
[van der Ven AT, Kater A, Goh Y, Prokisch H, Distelmaier F, "Mitochondrial complex II deficiency: phenotypic spectrum and diagnostic approach." Molecular Genetics and Metabolism (2020)](https://doi.org/10.1016/j.ymgme.2020.10.005)