ATPAF2
Description
The ATPAF2 (ATP synthase mitochondrial F1 complex assembly factor 2) is a protein-coding gene located on chromosome 17.
The ATPAF2 gene encodes a critical enzyme known as ATP synthase mitochondrial F1 complex assembly factor 2. This protein plays a vital role in assembling the F1 component of the mitochondrial ATP synthase, an essential enzyme for cellular energy production. It specifically binds to the F1 alpha subunit, preventing the formation of non-functional structures during the assembly process. Mutations in the ATPAF2 gene can lead to nuclear type 1 Complex V deficiency, a serious condition characterized by lactic acidosis, encephalopathy, and developmental delays. The ATPAF2 gene is located on chromosome 17, within the Smith-Magenis syndrome region. It is composed of 8 exons and spans 24,110 base pairs, producing a 32.8 kDa protein with 289 amino acids.
Potentially involved in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase).
ATPAF2 is also known as ATP12, ATP12p, LP3663, MC5DN1.
