SMTNL1
Description
The SMTNL1 (smoothelin like 1) is a protein-coding gene located on chromosome 11.
SMTNL1, or Smoothelin-like protein 1, contributes to the regulation of muscle contraction in both striated and smooth muscles. In its unphosphorylated form, it may prevent the breakdown of myosin phosphate. When phosphorylated at Ser-299, this inhibitory effect is diminished.
SMTNL1 is also known as CHASM.
Associated Diseases
- Moyamoya disease
- familial cylindromatosis
- systemic lupus erythematosus
- type 1 diabetes mellitus
- brain astrocytoma
- chronic intestinal pseudoobstruction
