Gene Symbol: C19orf70
Description: chromosome 19 open reading frame 70
Alias: MIC13, P117, QIL1, MICOS complex subunit MIC13, protein QIL1
Guarani V, Jardel C, ChrÃ©tien D, LombÃ¨s A, BÃ©nit P, Labasse C, et al
. QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease. elife. 2016;5: pubmed publisher
Previously, we identified QIL1 as a subunit of mitochondrial contact site (MICOS) complex and demonstrated a role for QIL1 in MICOS assembly, mitochondrial respiration, and cristae formation critical for mitochondrial architecture (..
Gödiker J, Gruneberg M, Duchesne I, Reunert J, Rust S, Westermann C, et al
. QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation. J Hum Genet. 2018;63:707-716 pubmed publisher
..A novel mutation of an essential splice site in the C19orf70 gene encoding QIL1 induces severe mitochondrial encephalopathy, hepatopathy and lactate acidosis consistent with ..
Guarani V, McNeill E, Paulo J, Huttlin E, FrÃ¶hlich F, Gygi S, et al
. QIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphology. elife. 2015;4: pubmed publisher
..Through systematic proteomic analysis of human MICOS, we identified QIL1 (C19orf70) as a novel conserved MICOS subunit...
Huynen M, MÃ¼hlmeister M, Gotthardt K, Guerrero Castillo S, Brandt U. Evolution and structural organization of the mitochondrial contact site (MICOS) complex and the mitochondrial intermembrane space bridging (MIB) complex. Biochim Biophys Acta. 2016;1863:91-101 pubmed publisher
..The remaining MICOS proteins, Mic10, Mic19, Mic25 and Mic12, the latter we show to be orthologous to human C19orf70/QIL1, trace back to the root of the eukaryotes...
Anand R, Strecker V, Urbach J, Wittig I, Reichert A. Mic13 Is Essential for Formation of Crista Junctions in Mammalian Cells. PLoS ONE. 2016;11:e0160258 pubmed publisher
..The MICOS complex determines formation of crista junctions. We performed complexome profiling and identified Mic13, also termed Qil1, as a subunit of the MICOS complex...
Zeharia A, Friedman J, Tobar A, Saada A, Konen O, Fellig Y, et al
. Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit. Eur J Hum Genet. 2016;24:1778-1782 pubmed publisher
..Gly15Glufs*75) variant in the QIL1/MIC13 (C19orf70) gene...