Sequence Detail

ID/Version

Q8JZQ2 (UniProt | EBI)

Last sequence update: 2002-10-01
Last annotation update: 2025-02-05

Sequence description from provider

RecName: Full=Mitochondrial inner membrane m-AAA protease component AFG3L2 {ECO:0000305}; EC=3.4.24.- {ECO:0000269|PubMed:19656850}; EC=3.6.-.- {ECO:0000250|UniProtKB:Q9Y4W6};AltName: Full=AFG3-like protein 2 {ECO:0000305};Flags: Precursor

Provider

SWISS-PROT

Sequence

Polypeptide 802 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Afg3l2	AFG3-like AAA ATPase 2	89	98	3	12

Sequence references in MGI

J:117691 Koppen M, et al., Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia. Mol Cell Biol. 2007 Jan;27(2):758-67
J:132285 Maltecca F, et al., The mitochondrial protease AFG3L2 is essential for axonal development. J Neurosci. 2008 Mar 12;28(11):2827-36
J:156874 Ehses S, et al., Regulation of OPA1 processing and mitochondrial fusion by m-AAA protease isoenzymes and OMA1. J Cell Biol. 2009 Dec 28;187(7):1023-36
J:164484 Koppen M, et al., Autocatalytic processing of m-AAA protease subunits in mitochondria. Mol Biol Cell. 2009 Oct;20(19):4216-24
J:185979 Maltecca F, et al., Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation. Hum Mol Genet. 2012 Sep 1;21(17):3858-70
J:187268 Mancuso G, et al., Alternative splicing of Spg7, a gene involved in hereditary spastic paraplegia, encodes a variant of paraplegin targeted to the endoplasmic reticulum. PLoS One. 2012;7(5):e36337
J:193564 Almajan ER, et al., AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival. J Clin Invest. 2012 Nov 1;122(11):4048-58
J:203468 Park J, et al., SIRT5-mediated lysine desuccinylation impacts diverse metabolic pathways. Mol Cell. 2013 Jun 27;50(6):919-30
J:210967 Kondadi AK, et al., Loss of the m-AAA protease subunit AFG(3)L(2) causes mitochondrial transport defects and tau hyperphosphorylation. EMBO J. 2014 May 2;33(9):1011-26
J:215238 Richter-Dennerlein R, et al., DNAJC19, a mitochondrial cochaperone associated with cardiomyopathy, forms a complex with prohibitins to regulate cardiolipin remodeling. Cell Metab. 2014 Jul 1;20(1):158-71
J:237410 Wang S, et al., The Mitochondrial m-AAA Protease Prevents Demyelination and Hair Greying. PLoS Genet. 2016 Dec;12(12):e1006463
J:248860 Konig T, et al., The m-AAA Protease Associated with Neurodegeneration Limits MCU Activity in Mitochondria. Mol Cell. 2016 Oct 6;64(1):148-162
J:277510 Mancini C, et al., Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity. Neurobiol Dis. 2019 Apr;124:14-28
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89
J:347350 Nolden M, et al., The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria. Cell. 2005 Oct 21;123(2):277-89