UQCC2
UQCC2 (Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 2) is a protein that in humans is encoded by the UQCC2 gene. This protein is a component of the mitochondrial respiratory chain which plays a crucial role in the cellular respiration process.
Function[edit | edit source]
The UQCC2 protein is involved in the assembly of the cytochrome bc1 complex, a component of the mitochondrial respiratory chain. This complex is responsible for the transfer of electrons from ubiquinol to cytochrome c, a process that is essential for ATP synthesis.
Clinical significance[edit | edit source]
Mutations in the UQCC2 gene have been associated with mitochondrial complex III deficiency, a rare genetic disorder characterized by a variety of clinical manifestations, including growth retardation, lactic acidosis, and hepatopathy.
Research[edit | edit source]
Research into the UQCC2 gene and its associated protein is ongoing, with studies focusing on its role in cellular respiration and the potential implications of mutations in this gene for human health.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
