GEMIN5
Description
GEMIN5 is a protein-coding gene that plays a critical role in the assembly and function of the spliceosome, a complex molecular machinery responsible for removing non-coding introns from pre-messenger RNA (pre-mRNA) during gene expression. The protein encoded by GEMIN5, known as Gemin5, interacts with other spliceosomal proteins, including the survival of motor neurons (SMN) complex, which is essential for the assembly of snRNPs, the building blocks of the spliceosome. Mutations in GEMIN5 can lead to disruptions in splicing, ultimately affecting the production of functional proteins.
Associated Diseases
- Spinal Muscular Atrophy (SMA): Mutations in GEMIN5 have been linked to a subset of SMA cases, particularly those with milder phenotypes.
- Myopathy: Defects in GEMIN5 have been associated with various types of myopathy, characterized by muscle weakness and degeneration.
- Neurodevelopmental Disorders: Some studies suggest a potential association between GEMIN5 variants and neurodevelopmental disorders, although further research is needed to confirm this link.
Did you know?
Gemin5 protein is highly conserved across species, highlighting its essential role in cellular function.
