SRRM4
Description
The SRRM4 (serine/arginine repetitive matrix 4) is a protein-coding gene located on chromosome 12.
SRRM4 is a splicing factor crucial for neural cell differentiation. It collaborates with nPTB/PTBP2, binding directly to target transcripts to promote inclusion of neural-specific exons in genes critical for neural development. SRRM4 specifically enhances inclusion of exon 10 in nPTB/PTBP2, leading to increased neural-specific nPTB/PTBP2 expression. Additionally, SRRM4 promotes exon 16 inclusion in DAAM1 within neurons. SRRM4 influences REST transcript splicing, producing REST isoform 3 (REST4) with reduced repressive activity, activating expression of REST targets in neural cells. SRRM4 plays a vital role during embryonic development and in the functioning of the adult nervous system. It regulates alternative splicing in genes with essential neuronal functions.
SRRM4 is also known as KIAA1853, MU-MB-2.76, nSR100.
Associated Diseases
- type 1 diabetes mellitus
- cancer
- X-linked dystonia-parkinsonism
- X-linked parkinsonism-spasticity syndrome
- spinocerebellar ataxia type 20
- torsion dystonia 2
- isolated dystonia
- spinocerebellar ataxia type 15/16
- X-linked hereditary sensory and autonomic neuropathy with hearing loss
- optic atrophy 2
