Structural highlights
Disease
CLPB_HUMAN 3-methylglutaconic aciduria type 7;Autosomal dominant severe congenital neutropenia. The disease is caused by variants affecting the gene represented in this entry.
Function
CLPB_HUMAN May function as a regulatory ATPase and be related to secretion/protein trafficking process. Involved in mitochondrial-mediated antiviral innate immunity, activates RIG-I-mediated signal transduction and production of IFNB1 and pro-inflammatory cytokine IL6 (PubMed:31522117).[1]
References
- ↑ Yoshinaka T, Kosako H, Yoshizumi T, Furukawa R, Hirano Y, Kuge O, Tamada T, Koshiba T. Structural Basis of Mitochondrial Scaffolds by Prohibitin Complexes: Insight into a Role of the Coiled-Coil Region. iScience. 2019 Sep 27;19:1065-1078. doi: 10.1016/j.isci.2019.08.056. Epub 2019, Sep 3. PMID:31522117 doi:http://dx.doi.org/10.1016/j.isci.2019.08.056
