This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined.ATPAF2 (ATP Synthase Mitochondrial F1 Complex Assembly Factor 2) is a Protein Coding gene. Diseases associated with ATPAF2 include Mitochondrial Complex V Deficiency, Nuclear Type 1 and Isolated Atp Synthase Deficiency.