Gene Review:
AFG3L2 - AFG3-like AAA ATPase 2
Homo sapiens
Synonyms:
AFG3-like protein 2, Paraplegin-like protein, SCA28, SPAX5
- 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)
- 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)
- 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)
- 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)