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Gene Summary: The protein encoded by MSTN gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. MSTN gene is thought to encode a secreted protein which negatively regulates skeletal muscle growth. [provided by RefSeq, Jul 2008]
General information above from NCBI
Subunit structure: Homodimer; disulfide-linked (By similarity). Interacts with WFIKKN2, leading to inhibit its activity. Interacts with FST3.
Subcellular location: Secreted.
Involvement in disease: Muscle hypertrophy (MSLHP) [MIM:614160]: A condition characterized by increased muscle bulk and strength. Affected individuals are exceptionally strong. Note=The disease is caused by mutations affecting the gene represented in this entry.
Sequence similarity: Belongs to the TGF-beta family.
