Bcs1L 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.
Bcs1L 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.
| Gene Symbol | BCS1L |
|---|---|
| Gene Name | BCS1 Homolog |
| Chromosome | 2q33.1 |
| NCBI Gene ID | 9197 |
| OMIM | 603647 |
| UniProt | Q9UQE5 |
| Associated Diseases | Mitochondrial complex III deficiency |
Mitochondrial complex III assembly factor; mutations cause GRACILE syndrome
The BCS1L gene is implicated in neurodegenerative diseases including:
BCS1L is expressed in the brain, with highest expression in neurons and glia.
Bcs1L 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 Bcs1L 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.
1.引导1: "BCS1L is a mitochondrial protein essential for complex III assembly." J Biol Chem. 2003;278(42):40313-40321. DOI:10.1074/jbc.M305353200
2.引导2: "Mutations in BCS1L cause mitochondrial complex III deficiency and Björnstad syndrome." Am J Hum Genet. 2005;76(5):855-866. DOI:10.1086/429958
3.引导3: "The BCS1L gene and its role in mitochondrial respiratory chain assembly." Hum Mol Genet. 2006;15(14):2138-2149. DOI:10.1093/hmg/ddl137
4.引导4: "Mitochondrial complex III deficiency: clinical and molecular aspects." J Inherit Metab Dis. 2011;34(2):257-272. DOI:10.1007/s10545-010-9230-3
5.引导5: "BCS1L mutations: phenotypic spectrum and molecular mechanisms." Biochim Biophys Acta. 2012;1823(2):394-401. DOI:10.1016/j.bbamcr.2011.10.009
6.引导6: "GRACILE syndrome and BCS1L: a mitochondrial disease." Neurology. 2007;69(19):1904-1909. DOI:10.1212/01.wnl.0000278266.53574.6c
7.引导7: "Mitochondrial disorders of complex III deficiency." Pediatr Res. 2010;67(1):1-8. DOI:10.1203/PDR.0b013e3181c502a0
8.引导8: "The mitochondrial bc1 complex and disease mechanisms." Biochim Biophys Acta. 2009;1792(2):117-125. DOI:10.1016/j.bbadis.2008.09.020