AFG3L2

AFG3L2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2LNA
Identifiers
Aliases	AFG3L2, SCA28, SPAX5, AFG3 like matrix AAA peptidase subunit 2, OPA12
External IDs	OMIM: 604581 MGI: 1916847 HomoloGene: 4947 GeneCards: AFG3L2
Gene location (Human) Chr. Chromosome 18 (human) Band 18p11.21 Start 12,328,944 bp End 12,377,227 bp
Gene location (Mouse) Chr. Chromosome 18 (mouse) Band 18|18 E1 Start 67,537,834 bp End 67,582,242 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 23 endothelial cell jejunal mucosa parietal pleura renal medulla right ventricle germinal epithelium tibia visceral pleura body of tongue Top expressed in interventricular septum proximal tubule myocardium of ventricle secondary oocyte skeletal muscle tissue brown adipose tissue right ventricle saccule jejunum duodenum More reference expression data BioGPS n/a
Gene ontology Molecular function nucleotide binding unfolded protein binding zinc ion binding metal ion binding peptidase activity protein binding metalloendopeptidase activity hydrolase activity ATP binding metallopeptidase activity Cellular component integral component of membrane membrane mitochondrion m-AAA complex mitochondrial inner membrane Biological process regulation of multicellular organism growth mitochondrion organization neuromuscular junction development myelination righting reflex proteolysis axonogenesis calcium import into the mitochondrion mitochondrial calcium ion homeostasis mitochondrial fusion nerve development mitochondrial protein processing cristae formation mitochondrial calcium ion transmembrane transport protein processing protein autoprocessing 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: 67.54 – 67.58 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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

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 as well as spastic ataxia-neuropathy syndrome.

External links

• Human AFG3L2 genome location and AFG3L2 gene details page in the UCSC Genome Browser.

Further reading

• Banfi S, Bassi MT, 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. S2CID 8173189.
• Augustin S, Gerdes F, Lee S, Tsai FT, 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. S2CID 1703983.
• 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 RL, Holmes SE, Nobili M, Forlani S, Padovan S, Pappi P, Zaros CC, 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. S2CID 38251230.