SRPK3
Description
The SRPK3 (SRSF protein kinase 3) is a protein-coding gene located on chromosome X.
SRPK3 is a kinase that specifically phosphorylates serine residues within RS domains, which are regions rich in arginine/serine dipeptides. It has been shown to phosphorylate the splicing factor SRSF1 and the lamin-B receptor (LBR) in vitro. SRPK3 is essential for normal muscle development.
SRPK3 is also known as MSSK-1, MSSK1, STK23.
Associated Diseases
- multiminicore myopathy
- exercise intolerance, riboflavin-responsive
- spinal muscular atrophy, facioscapulohumeral type
- inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- tibial muscular dystrophy
- GNE myopathy
- tubular aggregate myopathy
- autosomal dominant distal myopathy
- polyglucosan body myopathy type 2
- myofibrillar myopathy 3
- distal myopathy, Welander type
- spinal muscular atrophy, type IV
- autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
- autosomal recessive limb-girdle muscular dystrophy type 2G
- autosomal dominant limb-girdle muscular dystrophy type 1G
- muscular dystrophy, limb-girdle, autosomal recessive 23
- amyotrophic lateral sclerosis
