Entrez gene ID | | 91647 |
Official gene symbol | | ATPAF2 |
Full name | | ATP synthase mitochondrial F1 complex assembly factor 2 |
Aliases | | ,ATP12,ATP12p,LP3663,MGC29736, |
Gene 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] |
Location | | Chromosome: 17 Locus: 17p11.2 |
Gene position | | 17942480 - 17921334 Map Viewer |
Gene orientation | | minus |
Gene size | | 21147 bp |
Gene sequence |
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OMIM ID | | 608918 |