AFG3L2 explained

AFG3 ATPase family gene 3-like 2 (S. cerevisiae) is a protein that in humans is encoded by the AFG3L2 gene.^[1]

This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for other hereditary spastic paraplegias or neurodegenerative disorders ^[2] as well as spastic ataxia-neuropathy syndrome.^[3]

Further reading

• Banfi . S. . Bassi . M. T. . Andolfi . G. . Marchitiello . A. . Zanotta . S. . Ballabio . A. . Casari . G. . Franco . B. . 10.1006/geno.1999.5818 . Identification and Characterization of AFG3L2, a Novel Paraplegin-Related Gene . . 59 . 1 . 51–58 . 1999 . 10395799.
• Cagnoli . C. . Mariotti . C. . Taroni . F. . Seri . M. . Brussino . A. . Michielotto . C. . Grisoli . M. . Di Bella . D. . Migone . N. . Gellera . 10.1093/brain/awh651 . C. . Di Donato . S. . Brusco . A. . SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2 . . 129 . Pt 1 . 235–242 . 2005 . 16251216. free .
• Mariotti . C. . Brusco . A. . Bella . D. . Cagnoli . C. . Seri . M. . Gellera . C. . Donato . S. . Taroni . F. . 10.1007/s12311-008-0053-9 . Spinocerebellar ataxia type 28: A novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis . . 7 . 2 . 184–188 . 2008 . 18769991. 8173189 .
• Augustin . S. . Gerdes . F. . Lee . S. . Tsai . F. T. F. . Langer . T. . Tatsuta . T. . An intersubunit signaling network coordinates ATP hydrolysis by m-AAA proteases . 10.1016/j.molcel.2009.07.018 . . 35 . 5 . 574–585 . 2744646 . 2009 . 19748354.
• Di Bella . D. . Lazzaro . F. . Brusco . A. . Plumari . M. . Battaglia . G. . Pastore . A. . Finardi . A. . Cagnoli . C. . Tempia . F. . Frontali . 10.1038/ng.544 . 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. . Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28 . . 42 . 4 . 313–321 . 2010 . 20208537. 1703983 .
• Edener . U. . Wöllner . J. . Hehr . U. . Kohl . Z. . Schilling . S. . Kreuz . F. . Bauer . P. . Bernard . V. . Gillessen-Kaesbach . G. . Zühlke . C. . Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation . 10.1038/ejhg.2010.40 . . 18 . 8 . 965–968 . 2987378 . 2010 . 20354562.
• Cagnoli . C. . Stevanin . G. . Brussino . A. . Barberis . M. . Mancini . C. . Margolis . R. L. . Holmes . S. E. . Nobili . M. . Forlani . S. . Padovan . 10.1002/humu.21342 . S. . Pappi . P. . Zaros . C. C. . Leber . I. . Ribai . P. . Pugliese . L. . Assalto . C. . Brice . A. . Migone . N. . Dürr . A. . Brusco . A. . Missense mutations in the AFG3L2 proteolytic domain account for ~1.5% of European autosomal dominant cerebellar ataxias . . 31 . 10 . 1117–1124 . 2010 . 20725928. 38251230 . free .

Notes and References

1. Web site: Entrez Gene: AFG3 ATPase family gene 3-like 2 (S. cerevisiae). 2011-12-30 .
2. Web site: Entrez Gene: AFG3 ATPase family gene 3-like 2 (S. cerevisiae). 2011-12-30 .
3. Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C . Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases . . 7 . 10 . e1002325 . October 2011 . 22022284 . 3192828 . 10.1371/journal.pgen.1002325 . free .