AFG3L2

AFG3-like AAA ATPase 2
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2LNA
Identifiers
Symbols	AFG3L2 ; SCA28; SPAX5
External IDs	OMIM: 604581 HomoloGene: 4947 GeneCards: AFG3L2 Gene
Gene ontology Molecular function • metalloendopeptidase activity • protein binding • ATP binding • zinc ion binding • unfolded protein binding Cellular component • mitochondrion • mitochondrial inner membrane • integral component of membrane Biological process • axonogenesis • neuromuscular junction development • mitochondrial fusion • death • nerve development • mitochondrial protein processing • regulation of multicellular organism growth • cristae formation • myelination • muscle fiber development • righting reflex Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	10939	69597
Ensembl	ENSG00000141385	ENSMUSG00000024527
UniProt	Q9Y4W6	Q8JZQ2
RefSeq (mRNA)	NM_006796	NM_027130
RefSeq (protein)	NP_006787	NP_081406
Location (UCSC)	Chr 18: 12.33 – 12.38 Mb	Chr 18: 67.4 – 67.45 Mb
PubMed search

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. "Entrez Gene: AFG3 ATPase family gene 3-like 2 (S. cerevisiae)". Retrieved 2011-12-30.
2. 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 (October 2011). "Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases". PLoS Genet. 7 (10): e1002325. doi:10.1371/journal.pgen.1002325. PMC 3192828. PMID 22022284.

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.; Migone, N.; Gellera, C.; Di Donato, S.; Brusco, A. (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. PMC 2744646. PMID 19748354.
• 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. (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.; Gillessen-Kaesbach, G.; Zühlke, C. (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. PMC 2987378. PMID 20354562.
• Cagnoli, C.; Stevanin, G.; Brussino, A.; Barberis, M.; Mancini, C.; Margolis, R. L.; Holmes, S. E.; Nobili, M.; Forlani, S.; Padovan, S.; Pappi, P.; Zaros, C. C.; Leber, I.; Ribai, P.; Pugliese, L.; Assalto, C.; Brice, A.; Migone, N.; Dürr, A.; Brusco, A. (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.