The multi-protein transmembrane complex called the EMC family, which has ten subunits, was first discovered in yeast where it was considered to be in charge of removing improperly folded membrane proteins. The EMC might encourage interactions between the mitochondria and the ER, affecting how various proteins are processed and folded. Moreover, rhodopsin, which has been linked to retinal degeneration in Drosophila, plays a crucial part in the stability of many transmembrane proteins.
To date only 7 variants including nonsense, frame shift and splice site variants have been reported in the EMC10 gene that means loss of function variants (LOF) could be responsible for the disease phenotype. Missense variants have not been reported so far.
Figure 1: Schematic representation of the EMC10 gene/protein representing position of mutations identified. [Kaiyrzhanov et al. 2022; Umair et al. 2020; Shao et al. 2021] 
