Chromosome 19 open reading frame 70, also known as QIL1, MICOS complex subunit MIC13 (MIC13) or Protein P117 is a protein that in humans is encoded by the C19orf70gene.[1][2]
The C19orf70 gene is located on the p arm of chromosome 19 at position 13.3 and it spans 2,482 base pairs.[1] The C19orf70 gene produces a 9.7 kDa protein composed of 88 amino acids.[3][4]
Function
The C19orf70 gene encodes for a subunit of the MICOS (mitochondrial contact site and cristae junction organizing system) complex of the mitochondrial innner membrane. The 700-kD complex plays diverse roles such as the maintenance of crista junctions, formation of contact junctions to the outer membrane, and the dynamic regulation of mitochondrial membrane architecture. C19orf70, a component of the mature MICOS complex, localizes to the inner mitochondrial membrane at the cristae junctions and incorporates MINOS1 and MIC10 into the MICOS complex. The protein is necessary for the creation of the cristae junction, integrity of the cristae junction, and maintenance of cristae morphology. It is also essential for normal mitochondrial function.[5][2]
↑
Zeharia, A; Friedman, JR; Tobar, A; Saada, A; Konen, O; Fellig, Y; Shaag, A; Nunnari, J; Elpeleg, O (December 2016). "Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit". European journal of human genetics : EJHG. 24 (12): 1778–1782. doi:10.1038/ejhg.2016.83. PMID27485409.
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Mick DU, Dennerlein S, Wiese H, Reinhold R, Pacheu-Grau D, Lorenzi I, Sasarman F, Weraarpachai W, Shoubridge EA, Warscheid B, Rehling P (December 2012). "MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation". Cell. 151 (7): 1528–41. doi:10.1016/j.cell.2012.11.053. PMID23260140.
