GEMIN4

Description

GEMIN4, also known as Survival of Motor Neuron (SMN) complex protein 4, is a crucial component of the survival of motor neuron (SMN) complex. This complex plays a vital role in the assembly of the spliceosome, a complex molecular machine responsible for removing introns from pre-mRNA and joining exons to create mature messenger RNA (mRNA). GEMIN4 directly interacts with SMN, the central protein of the complex, and other components, facilitating the formation of snRNP (small nuclear ribonucleoprotein) assembly intermediates. These intermediates are essential for proper spliceosome formation and the accurate processing of mRNA, ultimately influencing protein synthesis and cellular function.

Associated Diseases

• Spinal Muscular Atrophy (SMA): Mutations in the SMN1 gene, which encodes the SMN protein, are the primary cause of SMA, a debilitating neuromuscular disorder characterized by progressive muscle weakness and atrophy. GEMIN4‘s role in the SMN complex highlights its potential involvement in SMA pathogenesis.
• Other Neurological Disorders: Due to its role in mRNA processing, dysregulation of GEMIN4 expression or function may contribute to other neurological disorders where aberrant splicing events are implicated.

Did you know?

GEMIN4 is a highly conserved protein, meaning its structure and function are similar across different species, highlighting its essential role in fundamental cellular processes.