Login
Login

AFG3L2

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{cs1 config|name-list-style=vanc|display-authors=6}}

{{Infobox_gene}}

AFG3 ATPase family gene 3-like 2 (S. cerevisiae) is a protein that in humans is encoded by the AFG3L2 gene.{{cite web | title = Entrez Gene: AFG3 ATPase family gene 3-like 2 (S. cerevisiae)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=10939| access-date = 2011-12-30 }}

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 {{cite web | title = Entrez Gene: AFG3 ATPase family gene 3-like 2 (S. cerevisiae)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=10939| access-date = 2011-12-30 }} as well as spastic ataxia-neuropathy syndrome.{{cite journal | vauthors = 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 | title = Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases | journal = PLOS Genetics | volume = 7 | issue = 10 | pages = e1002325 | date = October 2011 | pmid = 22022284 | pmc = 3192828 | doi = 10.1371/journal.pgen.1002325 | doi-access = free }}

References

{{reflist}}

External links

  • {{UCSC gene info|AFG3L2}}

Further reading

{{refbegin | 2}}

  • {{cite journal | vauthors = Banfi S, Bassi MT, Andolfi G, Marchitiello A, Zanotta S, Ballabio A, Casari G, Franco B | title = Identification and characterization of AFG3L2, a novel paraplegin-related gene | journal = Genomics | volume = 59 | issue = 1 | pages = 51–58 | date = July 1999 | pmid = 10395799 | doi = 10.1006/geno.1999.5818 }}
  • {{cite journal | vauthors = 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 | title = SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2 | journal = Brain | volume = 129 | issue = Pt 1 | pages = 235–242 | date = January 2006 | pmid = 16251216 | doi = 10.1093/brain/awh651 | doi-access = free }}
  • {{cite journal | vauthors = Mariotti C, Brusco A, Di Bella D, Cagnoli C, Seri M, Gellera C, Di Donato S, Taroni F | title = Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis | journal = Cerebellum | volume = 7 | issue = 2 | pages = 184–188 | year = 2008 | pmid = 18769991 | doi = 10.1007/s12311-008-0053-9 | s2cid = 8173189 }}
  • {{cite journal | vauthors = Augustin S, Gerdes F, Lee S, Tsai FT, Langer T, Tatsuta T | title = An intersubunit signaling network coordinates ATP hydrolysis by m-AAA proteases | journal = Molecular Cell | volume = 35 | issue = 5 | pages = 574–585 | date = September 2009 | pmid = 19748354 | pmc = 2744646 | doi = 10.1016/j.molcel.2009.07.018 }}
  • {{cite journal | vauthors = 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 | title = Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28 | journal = Nature Genetics | volume = 42 | issue = 4 | pages = 313–321 | date = April 2010 | pmid = 20208537 | doi = 10.1038/ng.544 | s2cid = 1703983 }}
  • {{cite journal | vauthors = Edener U, Wöllner J, Hehr U, Kohl Z, Schilling S, Kreuz F, Bauer P, Bernard V, Gillessen-Kaesbach G, Zühlke C | title = Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation | journal = European Journal of Human Genetics | volume = 18 | issue = 8 | pages = 965–968 | date = August 2010 | pmid = 20354562 | pmc = 2987378 | doi = 10.1038/ejhg.2010.40 }}
  • {{cite journal | vauthors = 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 | title = Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias | journal = Human Mutation | volume = 31 | issue = 10 | pages = 1117–1124 | date = October 2010 | pmid = 20725928 | doi = 10.1002/humu.21342 | s2cid = 38251230 | doi-access = free }}

{{refend}}

{{gene-18-stub}}