Sdhb 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.
Sdhb 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]
SDHB [2]
| | | [3]
|---|---| [4]
| Symbol | SDHB | [5]
| Full Name | Succinate Dehydrogenase Complex Iron Sulfur Subunit B |
| Chromosome | 1p36.13 |
| NCBI Gene ID | 6399 |
| OMIM | 605360 |
| Ensembl ID | ENSG00000117118 |
| UniProt ID | P21912 |
| Encoded Protein | SDHB Protein |
| Associated Diseases | Pheochromocytoma, Paraganglioma, Mitochondrial Complex II Deficiency |
The SDHB gene encodes SDHB 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 |
|---|---|---|
| Pheochromocytoma | Various | Pathogenic variants |
| Paraganglioma | Various | Pathogenic variants |
| Mitochondrial Complex II Deficiency | Various | Pathogenic variants |
SDHB is expressed in various brain regions, with notable expression in:
Sdhb 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 Sdhb 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.
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. Cell. 2015. ↩︎
Bardella C, Pollard PJ, Tomlinson I. "SDH mutations in cancer." Biochimica et Biophysica Acta. Biochimica et Biophysica Acta. 2018. ↩︎
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. Cancer Cell. 2013. ↩︎
Williamson J, Scott RJ, Tolmie J. "Mitochondrial complex II deficiency and neurological disease." Brain. Brain. 2019. ↩︎
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. Molecular Genetics and Metabolism. 2020. ↩︎