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Gene Review

AFG3L2  -  AFG3-like AAA ATPase 2

Homo sapiens

Synonyms: AFG3-like protein 2, Paraplegin-like protein, SCA28, SPAX5
 
 
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Disease relevance of AFG3L2

 

High impact information on AFG3L2

  • Furthermore, complementation studies in yeast demonstrate functional conservation of the human paraplegin-AFG3L2 complex with the yeast m-AAA protease and assign proteolytic activity to this structure [1].
  • We subsequently mapped AFG3L2 to chromosome 18p11 by radiation hybrid analysis [4].
  • 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 [4].
 

Analytical, diagnostic and therapeutic context of AFG3L2

 

References

  1. Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. Atorino, L., Silvestri, L., Koppen, M., Cassina, L., Ballabio, A., Marconi, R., Langer, T., Casari, G. J. Cell Biol. (2003) [Pubmed]
  2. Bovine spinal muscular atrophy: AFG3L2 is not a positional candidate gene. Joerg, H., Muntwyler, J., Glowatzki-Mullis, M.L., Ahrens, E., Asai-Coakwell, M., Stranzinger, G. J. Anim. Breed. Genet. (2005) [Pubmed]
  3. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Di Bella, D., Lazzaro, F., Brusco, A., Plumari, M., Battaglia, G., Pastore, A., Finardi, A., Cagnoli, C., Tempia, F., Frontali, M., Veneziano, L., Sacco, T., Boda, E., Brussino, A., Bonn, F., Castellotti, B., Baratta, S., Mariotti, C., Gellera, C., Fracasso, V., Magri, S., Langer, T., Plevani, P., Di Donato, S., Muzi-Falconi, M., Taroni, F. Nat. Genet. (2010) [Pubmed]
  4. 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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