UQCRB
UQCRB (Ubiquinol-Cytochrome C Reductase Binding Protein) is a protein that in humans is encoded by the UQCRB gene. It is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This protein plays an essential role in cellular respiration, a process that generates ATP, the cell's main source of energy.
Function[edit | edit source]
The UQCRB protein is a subunit of the ubiquinol-cytochrome c reductase complex. This complex, which is located in the inner mitochondrial membrane, plays a crucial role in the mitochondrial respiratory chain by catalyzing the transfer of electrons from ubiquinol (coenzyme Q) to cytochrome c. This electron transfer is coupled with the translocation of protons across the inner mitochondrial membrane, contributing to the establishment of a proton gradient that drives ATP synthesis.
Clinical Significance[edit | edit source]
Mutations in the UQCRB gene have been associated with mitochondrial complex III deficiency, a rare genetic disorder characterized by a broad spectrum of clinical manifestations, including growth retardation, liver dysfunction, hypoglycemia, and lactic acidosis. Early-onset forms of the disease can lead to severe neurological symptoms, such as encephalopathy, seizures, and hypotonia.
Research[edit | edit source]
Research on UQCRB has focused on understanding its role in the mitochondrial respiratory chain and its implications in disease. Studies have shown that UQCRB is essential for the assembly and stability of the ubiquinol-cytochrome c reductase complex. Furthermore, research has suggested that UQCRB could be a potential therapeutic target for diseases related to mitochondrial dysfunction.
See Also[edit | edit source]
References[edit | edit source]
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