Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein

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dc.contributor.authorKremmidiotis, G.
dc.contributor.authorGardner, A.
dc.contributor.authorSettasatian, C.
dc.contributor.authorSavoia, A.
dc.contributor.authorSutherland, G.
dc.contributor.authorCallen, D.
dc.date.issued2001
dc.description© 2001 by Academic Press. All rights of reproduction in any form reserved.
dc.description.abstractThe identification of SPG7 as the gene defective in a recessive form of spastic paraplegia has drawn attention to the yeast protein family of ATP-dependent 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 paraplegia and possibly other neurodegenerative disorders. So far only a partial sequence has been available for one of those genes, ATPase family gene-3, yeast-like-1 (AFG3L1). We have carried out detailed molecular analysis of this gene and identified and characterized its mouse orthologue, Afg3l1. Our data indicate that AFG3L1 is transcribed into four mRNA isoforms that are not translated in humans. Afg3l1 encodes a protein with high homology to paraplegin and the other members of the ATP-dependent zinc metalloprotease family. Like the other ATP-dependent zinc metalloproteases, Afg3l1 localizes to the mitochondria.
dc.description.statementofresponsibilityGabriel Kremmidiotis, Alison E. Gardner, Chatri Settasatian, Anna Savoia, Grant R. Sutherland, and David F. Callen
dc.identifier.citationGenomics, 2001; 76(1-3):58-65
dc.identifier.doi10.1006/geno.2001.6560
dc.identifier.issn0888-7543
dc.identifier.issn1089-8646
dc.identifier.orcidGardner, A. [0009-0009-7321-1697]
dc.identifier.orcidCallen, D. [0000-0002-6189-9991]
dc.identifier.urihttp://hdl.handle.net/2440/28109
dc.language.isoen
dc.publisherAcademic Press Inc
dc.relation.grantNHMRC
dc.source.urihttps://doi.org/10.1006/geno.2001.6560
dc.subjectCell Line
dc.subjectHela Cells
dc.subject3T3 Cells
dc.subjectMitochondria
dc.subjectAnimals
dc.subjectHumans
dc.subjectMice
dc.subjectSpastic Paraplegia, Hereditary
dc.subjectZinc
dc.subjectMetalloendopeptidases
dc.subjectAdenosine Triphosphate
dc.subjectChromosome Mapping
dc.subjectGene Expression Profiling
dc.subjectAmino Acid Sequence
dc.subjectBase Sequence
dc.subjectSequence Homology, Amino Acid
dc.subjectExpressed Sequence Tags
dc.subjectMolecular Sequence Data
dc.subjectATPases Associated with Diverse Cellular Activities
dc.titleMolecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein
dc.typeJournal article
pubs.publication-statusPublished

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