Uqcrfs1 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.
{{Infobox gene
| symbol = UQCRFS1
| name = Cytochrome B-C1 Complex Subunit Rieske
| chromosome = 19
| locus = 19p13.3
| geneID = 27089
| omim = 191329
| ensembl = ENSG00000173653
| uniprot = P31930
| uniprot_name = UQCRFS1
| diseases = Mitochondrial Complex III Deficiency, Leigh Syndrome, Encephalomyopathy
| diseases_ref = Stewart et al., 2019, Nat Genet
}}
UQCRFS1 (Ubiquinol-cytochrome c reductase core protein 1), also known as Rieske iron-sulfur protein (RISP), is a nuclear-encoded mitochondrial protein that is a core component of complex III (cytochrome bc1 complex) in the electron transport chain. The UQCRFS1 gene is located on chromosome 19q12 and encodes a protein of 274 amino acids. UQCRFS1 contains a [2Fe-2S] iron-sulfur cluster that transfers electrons from ubiquinol to cytochrome c. In neurons, UQCRFS1 supports oxidative phosphorylation and ATP production. Mutations cause mitochondrial complex III deficiency, leading to encephalomyopathy, Leigh syndrome, and metabolic disorders. The enzyme is sensitive to oxidative stress and implicated in neurodegeneration.
Cytochrome b-c1 complex subunit Rieske (UQCRFS1) is a core subunit of mitochondrial complex III (cytochrome bc1 complex). UQCRFS1 contains an iron-sulfur (2Fe-2S) cluster and is essential for electron transfer within the complex.
The cytochrome bc1 complex catalyzes:
UQCRFS1 contains a [2Fe-2S] center:
UQCRFS1 plays a role in apoptosis:
UQCRFS1 mutations cause complex III deficiency:
UQCRFS1 deficiency can cause Leigh syndrome:
UQCRFS1 mutations cause:
UQCRFS1 is expressed in:
The study of Uqcrfs1 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.
Giannos P et al.. "Altered mitochondrial microenvironment at the spotlight of musculoskeletal aging and Alzheimer's disease." Scientific reports (2022) DOI:10.1038/s41598-022-15578-9
Alfattal R et al.. "LYRM7-associated mitochondrial complex III deficiency with non-cavitating leukoencephalopathy and stroke-like episodes." American journal of medical genetics. Part A (2023) DOI:10.1002/ajmg.a.63143