ATPAF2
ATPAF2 (ATP synthase mitochondrial F1 complex assembly factor 2) is a protein that in humans is encoded by the ATPAF2 gene. This protein is a component of the mitochondrial ATP synthase, also known as Complex V, which is responsible for ATP production in the mitochondria.
Function[edit | edit source]
ATPAF2 is an assembly factor for the F1 component of the mitochondrial ATP synthase. This enzyme, which is also known as Complex V, is responsible for the final step of oxidative phosphorylation in the mitochondria, where it synthesizes ATP from ADP and inorganic phosphate. The ATPAF2 protein helps to regulate the assembly and stability of this complex.
Clinical significance[edit | edit source]
Mutations in the ATPAF2 gene have been associated with a rare genetic disorder known as Mitochondrial complex V deficiency, which is characterized by a wide range of symptoms including neurological abnormalities, cardiomyopathy, and lactic acidosis.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
