DISEASES

Disease-gene associations mined from literature

Literature associating SMTNL1 and familial hypertrophic cardiomyopathy

SMTNL1 [ENSP00000432651]

Smoothelin-like protein 1; Plays a role in the regulation of contractile properties of both striated and smooth muscles. When unphosphorylated, may inhibit myosin dephosphorylation. Phosphorylation at Ser-299 reduces this inhibitory activity (By similarity).

Synonyms:  SMTNL1,  SMTNL1p,  hSMTNL1,  A8MU46,  C9J621 ...

Linkouts:  STRING  Pharos  UniProt