Gene Locus : human-cb069
Mode of mutation : Natural mutant
Disease : Combined oxidative phosphorylation deficiency-53 (COXPD53)
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
Lausberg et al. (2021) identified homozygosity for a 5-bp deletion c.843_847del, NM_153689.6) in the C2ORF69 gene, resulting in a frameshift and premature termination (Lys282GlnfsTer55
| Title : C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation - Lausberg_2021_J.Clin.Invest_131_e143078 |
| Author(s) : Lausberg E , Giesselmann S , Dewulf JP , Wiame E , Holz A , Salvarinova R , van Karnebeek CD , Klemm P , Ohl K , Mull M , Braunschweig T , Weis J , Sommer CJ , Demuth S , Haase C , Stollbrink-Peschgens C , Debray FG , Libioulle C , Choukair D , Oommen PT , Borkhardt A , Surowy H , Wieczorek D , Wagner N , Meyer R , Eggermann T , Begemann M , van Schaftingen E , Hausler M , Tenbrock K , van den Heuvel L , Elbracht M , Kurth I , Kraft F |
| Ref : J Clinical Investigation , 131 : , 2021 |
| Abstract : |
| PubMedSearch : Lausberg_2021_J.Clin.Invest_131_e143078 |
| PubMedID: 33945503 |
| Gene_locus related to this paper: human-cb069 |