RecName: Full=MICOS complex subunit MIC13; AltName: Full=Protein P117

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A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome. [Mol Genet Genomic Med. 2020]
A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome.
Kishita Y, Shimura M, Kohda M, Akita M, Imai-Okazaki A, Yatsuka Y, Nakajima Y, Ito T, Ohtake A, Murayama K, et al. Mol Genet Genomic Med. 2020 Oct; 8(10):e1427. Epub 2020 Aug 4.
QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation. [J Hum Genet. 2018]
QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation.
Gödiker J, Grüneberg M, DuChesne I, Reunert J, Rust S, Westermann C, Wada Y, Classen G, Langhans CD, Schlingmann KP, et al. J Hum Genet. 2018 Jun; 63(6):707-716. Epub 2018 Apr 4.
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease. [Elife. 2016]
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease.
Guarani V, Jardel C, Chrétien D, Lombès A, Bénit P, Labasse C, Lacène E, Bourillon A, Imbard A, Benoist JF, et al. Elife. 2016 Sep 13; 5. Epub 2016 Sep 13.

RefSeq protein isoforms
See 5 reference sequence protein isoforms for the MICOS13 gene.

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Protein