Mitofusin genes and their uses

Abstract

Mitofusin genes and encoded polypeptides are provided, including the Drosophila Fzo protein and its homologs from insects, other invertebrates, yeast, and vertebrates including mouse and humans. Motifusins are large predicted GTPases with a predicted trans-membrane domain, coiled-coil regions, and a C-terminal region showing a high pl characteristic of mitochondrial matrix proteins. The mitofusins are the first known protein mediator of mitochondrial fusion, and mediate developmentally regulated post-meiotic fusion of mitochondria. Missense mutations that after conserved residues required for GTP binding in other GTPases inhibit the in vivo fusogenic activitiy of Fzo but do not affect its localization.

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