This family has 11 members: 1 Arabidopsis thaliana, 1 Caenorhabditis elegans, 1 Danio rerio, 1 Dictyostelium discoideum, 1 Drosophila melanogaster, 1 Gallus gallus, 1 Homo sapiens, 1 Mus musculus, 1 Rattus norvegicus, 1 Saccharomyces cerevisiae, 1 Schizosaccharomyces pombe.
Protein | Publication | Curator Notes | |
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UniProtKB:P22135 · SGD:S000003716 | 19933271 Meulemans A, et al. Defining the pathogenesis of the human Atp12p W94R mutation using a Saccharomyces cerevisiae yeast model. J Biol Chem. 2010 Feb 5;285(6):4099-109. | The H. sapiens protein ATPAF2 complements a homologous mutation in S. cerevisiae. |
OMIM (1) |
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UniProtKB:P22135 · SGD:S000003716 | #604273 ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASEDEFICIENCY;;ATPase DEFICIENCY |
SGD Disease Papers (2) |
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UniProtKB:P22135 · SGD:S000003716 | 14757859 De Meirleir L, et al. (2004) Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. J Med Genet 41(2):120-4 |
12206899 Ackerman SH (2002) Atp11p and Atp12p are chaperones for F(1)-ATPase biogenesis in mitochondria. Biochim Biophys Acta 1555(1-3):101-5 |