Emerging hallmarks of GEMIN5 in neurodevelopmental disease
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.
Fields of Study & Subjects
RNA Research and Splicing
Genetics and Neurodevelopmental Disorders
Genomics and Rare Diseases
Publication details
- Journal / source
- Cell Signaling
- Volume
- 4
- Issue
- 1
- Pages
- 21–21
- Publication date
- 24 January 2026
- Language
- EN