UQCC2
Description
The UQCC2 (ubiquinol-cytochrome c reductase complex assembly factor 2) is a protein-coding gene located on chromosome 6.
Ubiquinol-cytochrome c reductase complex assembly factor 2 (UQCC2) is a protein encoded by the UQCC2 gene in humans. It is located in the mitochondrial nucleoid and serves as a complex III assembly factor, playing a crucial role in cytochrome b biogenesis alongside the UQCC1 protein. UQCC2 regulates insulin secretion and mitochondrial ATP production and oxygen consumption. A mutation in the UQCC2 gene has been linked to Complex III deficiency, characterized by intrauterine growth retardation, neonatal lactic acidosis, and renal tubular dysfunction. The UQCC2 gene is situated on chromosome 6, spanning 14,990 base pairs and producing a 14.9 kDa protein consisting of 126 amino acids. This protein is associated with the mitochondrial nucleoid, likely residing in the peripheral region, and shares a similar distribution pattern with other nucleoid components like mtSSB and PHB1/PHB2. UQCC2 is a nucleoid protein located in the mitochondrial inner membrane and sublocalized to the mitochondrial matrix.
UQCC2 is essential for assembling the ubiquinol-cytochrome c reductase complex (also known as complex III or cytochrome b-c1 complex), which plays a crucial role in the mitochondrial respiratory chain. This protein influences the activity of the respiratory chain, directly impacting oxygen consumption and ATP production within the mitochondria. The regulation of respiratory chain activity by UQCC2 has downstream effects on skeletal muscle differentiation and insulin secretion by pancreatic beta-cells. UQCC2 also contributes to the stability and translation of cytochrome b.
UQCC2 is also known as C6orf125, C6orf126, Cbp6, M19, MC3DN7, MNF1, bA6B20.2.
