SRSF4
Description
The SRSF4 (serine and arginine rich splicing factor 4) is a protein-coding gene located on chromosome 1.
SRSF4 is involved in regulating alternative splicing, which allows for the production of different protein isoforms from a single gene. Specifically, it plays a role in selecting which splice sites are used during pre-mRNA splicing. SRSF4 also inhibits the inclusion of exon 10 in the MAPT gene, which encodes the Tau protein.
SRSF4 is also known as SFRS4, SRP75.
Associated Diseases
- Griscelli syndrome type 3
- uncombable hair syndrome
- oculocutaneous albinism type 3
- Clouston syndrome
- microcephaly-albinism-digital anomalies syndrome
