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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Identification and characterization of AFG3L2, a novel paraplegin-related gene.

We recently identified a gene responsible for an autosomal recessive form of hereditary spastic paraplegia (HSP). This gene encodes paraplegin, a mitochondrial protein highly homologous to the yeast mitochondrial ATPases Afg3p and Rcalp, which have both proteolytic and chaperone-like activities at the inner mitochondrial membrane. By screening the Expressed Sequence Tag database, we identified and characterized a novel human cDNA, ATPase family gene 3-like 2 (AFG3L2, Human Gene Nomenclature Committee-approved symbol), which is closely related to paraplegin. This cDNA encodes a 797-amino-acid predicted protein highly similar to paraplegin as well as to yeast Afg3p and Rca1p. Immunofluorescence studies revealed that AFG3L2 and paraplegin share a similar expression pattern and the same subcellular localization, the mitochondrial compartment. We subsequently mapped AFG3L2 to chromosome 18p11 by radiation hybrid analysis. AFG3L2 may represent a candidate gene for other forms of HSPs and possibly for other neurodegenerative disorders.[1]


  1. Identification and characterization of AFG3L2, a novel paraplegin-related gene. Banfi, S., Bassi, M.T., Andolfi, G., Marchitiello, A., Zanotta, S., Ballabio, A., Casari, G., Franco, B. Genomics (1999) [Pubmed]
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