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'''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 ==

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 ==

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 ==

* [[ATP synthase]]
* [[Mitochondrial complex V deficiency]]
* [[Oxidative phosphorylation]]

== References ==

{{Reflist}}

[[Category:Human proteins]]
[[Category:Genes]]
[[Category:Mitochondrial diseases]]
[[Category:Metabolic disorders]]
[[Category:Neurological disorders]]
[[Category:Cardiology]]

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ATPAF2 - Revision history

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