ATPAF2, Official Symbol ATPAF2provided by HGNC Official Full Name ATP synthase mitochondrial F1 complex assembly factor 2provided by HGNC Primary source HGNC:HGNC:18802 See related Ensembl:ENSG00000171953 MIM:608918; AllianceGenome:HGNC:18802 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATP12; ATP12p; LP3663; MC5DN1 Summary 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. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 3.4), bone marrow (RPKM 2.9) and 25 other tissues See more Orthologs mouse all