Abstract
GEMIN5 is a modular RNA-binding protein responsible for the recognition of snRNAs through its WD40 domain placed at the N-terminus. A dimerization module at the central region of the protein acts as a hub for protein-protein interaction, and a non-canonical RNA-binding domain is placed towards the C-terminus. Recent studies reported loss of function Gemin5 biallelic variants which develop cerebellar ataxia, hypotonia and neurodevelopmental delay, indicating that GEMIN5 deficiency is detrimental for survival. This commentary highlights the functional and structural features of GEMIN5 and how this information contributes to the understanding of protein malfunction.
Keywords
RNA-binding proteins, Gemin5 variants, Neurodevelopmental disease, Survival of Motor Neurons (SMN) complex