SREK1
Description
The SREK1 (splicing regulatory glutamic acid and lysine rich protein 1) is a protein-coding gene located on chromosome 5.
SREK1 plays a crucial role in regulating alternative splicing by influencing the activity of other splicing factors. It specifically inhibits the splicing activity of SFRS1, SFRS2, and SFRS6, while enhancing the splicing activity of SFRS3. This modulation of splicing factor activity contributes to the diverse range of protein isoforms produced from a single gene.
SREK1 is also known as SFRS12, SRrp508, SRrp86.
Associated Diseases
- lysosomal storage disease
- multiple sclerosis
- Alzheimer disease
- Parkinson disease
- Huntington disease
- hypoparathyroidism, familial isolated, 2
- pseudohypoparathyroidism type 2
- autosomal recessive hypophosphatemic rickets
- X-linked dystonia-parkinsonism
