MSTN
Function
Acts specifically as a negative regulator of skeletal muscle growth.
Involvement in disease
Muscle hypertrophy
MSLHP
A condition characterized by increased muscle bulk and strength. Affected individuals are exceptionally strong.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Synthesized as large precursor molecule that undergoes proteolytic cleavage to generate an N-terminal propeptide and a disulfide linked C-terminal dimer, which is the biologically active molecule. The circulating form consists of a latent complex of the C-terminal dimer and other proteins, including its propeptide, which maintain the C-terminal dimer in a latent, inactive state. Ligand activation requires additional cleavage of the prodomain by a tolloid-like metalloproteinase.
Sequence Similarities
Belongs to the TGF-beta family.
Cellular localization
- Secreted
Alternative names
GDF8, MSTN, Growth/differentiation factor 8, GDF-8, Myostatin