Biology:AFG3L2
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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 [1] as well as spastic ataxia-neuropathy syndrome.[2]
References
- ↑ 1.0 1.1 "Entrez Gene: AFG3 ATPase family gene 3-like 2 (S. cerevisiae)". https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=10939. Retrieved 2011-12-30.
- ↑ "Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases". PLoS Genet. 7 (10): e1002325. October 2011. doi:10.1371/journal.pgen.1002325. PMID 22022284.
External links
- Human AFG3L2 genome location and AFG3L2 gene details page in the UCSC Genome Browser.
Further reading
- Banfi, S.; Bassi, M. T.; Andolfi, G.; Marchitiello, A.; Zanotta, S.; Ballabio, A.; Casari, G.; Franco, B. (1999). "Identification and Characterization of AFG3L2, a Novel Paraplegin-Related Gene". Genomics 59 (1): 51–58. doi:10.1006/geno.1999.5818. PMID 10395799.
- Cagnoli, C.; Mariotti, C.; Taroni, F.; Seri, M.; Brussino, A.; Michielotto, C.; Grisoli, M.; Di Bella, D. et al. (2005). "SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2". Brain 129 (Pt 1): 235–242. doi:10.1093/brain/awh651. PMID 16251216.
- Mariotti, C.; Brusco, A.; Bella, D.; Cagnoli, C.; Seri, M.; Gellera, C.; Donato, S.; Taroni, F. (2008). "Spinocerebellar ataxia type 28: A novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis". The Cerebellum 7 (2): 184–188. doi:10.1007/s12311-008-0053-9. PMID 18769991.
- Augustin, S.; Gerdes, F.; Lee, S.; Tsai, F. T. F.; Langer, T.; Tatsuta, T. (2009). "An intersubunit signaling network coordinates ATP hydrolysis by m-AAA proteases". Molecular Cell 35 (5): 574–585. doi:10.1016/j.molcel.2009.07.018. PMID 19748354.
- Di Bella, D.; Lazzaro, F.; Brusco, A.; Plumari, M.; Battaglia, G.; Pastore, A.; Finardi, A.; Cagnoli, C. et al. (2010). "Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28". Nature Genetics 42 (4): 313–321. doi:10.1038/ng.544. PMID 20208537.
- Edener, U.; Wöllner, J.; Hehr, U.; Kohl, Z.; Schilling, S.; Kreuz, F.; Bauer, P.; Bernard, V. et al. (2010). "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. doi:10.1038/ejhg.2010.40. PMID 20354562.
- Cagnoli, C.; Stevanin, G.; Brussino, A.; Barberis, M.; Mancini, C.; Margolis, R. L.; Holmes, S. E.; Nobili, M. et al. (2010). "Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias". Human Mutation 31 (10): 1117–1124. doi:10.1002/humu.21342. PMID 20725928. https://hal.archives-ouvertes.fr/hal-00574001/document.
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