ATPAF2

ATP synthase mitochondrial F1 complex assembly factor 2
Identifiers
Symbols ATPAF2; ATP12; ATP12p; MGC29736
External IDs OMIM608918 MGI2180561 HomoloGene34602 GeneCards: ATPAF2 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 91647 246782
Ensembl ENSG00000171953 ENSMUSG00000042709
UniProt Q8N5M1 Q91YY4
RefSeq (mRNA) NM_145691 NM_145427.2
RefSeq (protein) NP_663729 NP_663402.2
Location (UCSC) Chr 17:
17.92 – 17.94 Mb
Chr 11:
60.21 – 60.23 Mb
PubMed search [1] [2]

ATP synthase mitochondrial F1 complex assembly factor 2 is an enzyme that in humans is encoded by the ATPAF2 gene.[1][2][3]

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.[3]

References

  1. ^ Wang ZG, White PS, Ackerman SH (Aug 2001). "Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria". J Biol Chem 276 (33): 30773–8. doi:10.1074/jbc.M104133200. PMID 11410595. 
  2. ^ Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR (May 2002). "Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse". Genome Res 12 (5): 713–28. doi:10.1101/gr.73702. PMC 186594. PMID 11997338. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=186594. 
  3. ^ a b "Entrez Gene: ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=91647. 

Further reading