Mitofusin genes and their uses
AssigneeThe Board of Trustees of the Leland Stanford Junior University
InventorsMargaret T. Fuller, Karen G. Hales
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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 alter conserved residues required for GTP binding in other GTPases inhibit the in vivo fusogenic activitiy of Fzo but do not affect its localization.
Claims14
A purified polypeptide composition comprising at least 50% by weight of the protein present as a mitofusin protein.
A purified polypeptide fragment of at least 2 amino acids, and comprising a contiguous sequence set forth in one of SEQ ID NO:2 or SEQ ID NO:4.
A purified mitofusin polypeptide encoded by a nucleic acid that hybridizes under stringent conditions to the complementary sequence to SEQ ID NO:1.
A purified mitofusin polypeptide encoded by a nucleic acid that hybridizes under stringent conditions to the complementary sequence to SEQ ID NO:3.
Dependencies are inferred from the claim text.