UQCRC2
UQCRC2[edit | edit source]
UQCRC2 (Ubiquinol-Cytochrome C Reductase Core Protein II) is a protein that in humans is encoded by the UQCRC2 gene. This protein 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.
Function[edit | edit source]
The UQCRC2 protein is one of the 11 subunits of the ubiquinol-cytochrome c reductase complex. This complex is a critical component of the mitochondrial respiratory chain, which is involved in the process of cellular respiration. Specifically, the UQCRC2 protein plays a role in the transfer of electrons from ubiquinol to cytochrome c, a key step in the process of oxidative phosphorylation.
Clinical significance[edit | edit source]
Mutations in the UQCRC2 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 hepatomegaly.
See also[edit | edit source]
References[edit | edit source]
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