SRRM2 is a splicing factor component of the nuclear speckles, involved in the assembly of spliceosome components and pre-mRNA processing.
The SRRM2 gene encodes a protein involved in RNA processing and splicing mechanisms critical for neuronal function and survival.
SRRM2 participates in the spliceosome-mediated removal of introns from pre-mRNA [1]. Dysregulation of splicing factors has been implicated in several neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and spinal muscular atrophy (SMA) [2]. The spliceosome undergoes dynamic conformational changes during the splicing cycle, and SRRM2 contributes to splice site recognition and catalytic steps [3].
Alterations in RNA splicing are a hallmark of many neurodegenerative disorders [4]. Mutations in genes encoding splicing factors can lead to aberrant splicing patterns that affect neuronal viability [5]. The SRRM2 protein is expressed in various brain regions, including the cortex, hippocampus, and spinal cord, where it supports proper RNA metabolism essential for neuronal health [6].
| Disease | Relationship | Evidence |
|---|---|---|
| Amyotrophic Lateral Sclerosis (ALS) | Dysregulated splicing | Altered expression in ALS motor neurons [7] |
| Frontotemporal Dementia (FTD) | Splicing abnormalities | Found in inclusion bodies in FTD [8] |
SRRM2 is expressed ubiquitously in human tissues, with high expression in:
Targeting splicing modulation represents a therapeutic strategy for neurodegenerative diseases [8]. Small molecule splicing modulators are being developed to restore proper splicing patterns.