Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein
G. Kremmidiotis et al., Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein, GENOMICS, 76(1-3), 2001, pp. 58-65
The identification of SPG7 as the gene defective in a recessive form of spa
stic paraplegia has drawn attention to the yeast protein family of ATP-depe
ndent zinc metalloproteases. The protein encoded by SPG7, paraplegin, shows
high homology to members of this protein family. Recently, many mammalian
ATP-dependent zinc metalloproteases have been identified and considered as
possible candidates for defects in other forms of hereditary spastic parapl
egia and possibly other neurodegenerative disorders. So far only a partial
sequence has been available for one of those genes, ATPase family gene-3, y
east-like-1 (AFGM). We have carried out detailed molecular analysis of this
gene and identified and characterized its mouse orthologue, Afg3L1. Our da
ta indicate that AFG3L1 is transcribed into four mRNA isoforms that are not
translated in humans. Afg3l1 encodes a protein with high homology to parap
legin and the other members of the ATP-dependent zinc metalloprotease famil
y. Like the other ATP-dependent zinc metalloproteases, Afg3l1 localizes to
the mitochondria.