Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/28109
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Type: Journal article
Title: Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein
Author: Kremmidiotis, G.
Gardner, A.
Settasatian, C.
Savoia, A.
Sutherland, G.
Callen, D.
Citation: Genomics, 2001; 76(1-3):58-65
Publisher: Academic Press Inc
Issue Date: 2001
ISSN: 0888-7543
1089-8646
Statement of
Responsibility: 
Gabriel Kremmidiotis, Alison E. Gardner, Chatri Settasatian, Anna Savoia, Grant R. Sutherland, and David F. Callen
Abstract: The 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.
Keywords: Cell Line
Hela Cells
3T3 Cells
Mitochondria
Animals
Humans
Mice
Spastic Paraplegia, Hereditary
Zinc
Metalloendopeptidases
Adenosine Triphosphate
Chromosome Mapping
Gene Expression Profiling
Amino Acid Sequence
Base Sequence
Sequence Homology, Amino Acid
Expressed Sequence Tags
Molecular Sequence Data
ATPases Associated with Diverse Cellular Activities
Description: © 2001 by Academic Press. All rights of reproduction in any form reserved.
DOI: 10.1006/geno.2001.6560
Appears in Collections:Aurora harvest 2
Molecular and Biomedical Science publications

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