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 MT, Andolfi G, Marchitiello A, Zanotta S, Ballabio A, Casari G, Franco B . Identification and characterization of AFG3L2, a novel paraplegin-related gene . Genomics . 59 . 1 . 51–58 . July 1999 . 10395799 . 10.1006/geno.1999.5818 .
• Cagnoli C, Mariotti C, Taroni F, Seri M, Brussino A, Michielotto C, Grisoli M, Di Bella D, Migone N, Gellera C, Di Donato S, Brusco A . SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2 . Brain . 129 . Pt 1 . 235–242 . January 2006 . 16251216 . 10.1093/brain/awh651 . free .
• Mariotti C, Brusco A, Di Bella D, Cagnoli C, Seri M, Gellera C, Di Donato S, Taroni F . Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis . Cerebellum . 7 . 2 . 184–188 . 2008 . 18769991 . 10.1007/s12311-008-0053-9 . 8173189 .
• Augustin S, Gerdes F, Lee S, Tsai FT, Langer T, Tatsuta T . An intersubunit signaling network coordinates ATP hydrolysis by m-AAA proteases . Molecular Cell . 35 . 5 . 574–585 . September 2009 . 19748354 . 2744646 . 10.1016/j.molcel.2009.07.018 .
• 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 . Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28 . Nature Genetics . 42 . 4 . 313–321 . April 2010 . 20208537 . 10.1038/ng.544 . 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 . European Journal of Human Genetics . 18 . 8 . 965–968 . August 2010 . 20354562 . 2987378 . 10.1038/ejhg.2010.40 .
• Cagnoli C, Stevanin G, Brussino A, Barberis M, Mancini C, Margolis RL, Holmes SE, Nobili M, Forlani S, Padovan S, Pappi P, Zaros 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 . Human Mutation . 31 . 10 . 1117–1124 . October 2010 . 20725928 . 10.1002/humu.21342 . 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 . PLOS Genetics . 7 . 10 . e1002325 . October 2011 . 22022284 . 3192828 . 10.1371/journal.pgen.1002325 . free .