DISEASES

Disease-gene associations mined from literature

Literature associating STAC3 and lagophthalmos

STAC3 [ENSP00000329200]

SH3 and cysteine-rich domain-containing protein 3; Required for normal excitation-contraction coupling in skeletal muscle and for normal muscle contraction in response to membrane depolarization. Required for normal Ca(2+) release from the sarcplasmic reticulum, which ultimately leads to muscle contraction. Probably functions via its effects on muscle calcium channels . Increases CACNA1S channel activity, in addition to its role in enhancing the expression of CACNA1S at the cell membrane. Has a redundant role in promoting the expression of the calcium channel CACNA1S at the cell membrane (By similarity). Slows down the inactivation rate of the calcium channel CACNA1C .

Synonyms:  STAC3,  STAC3p,  hSTAC3,  A0A024RB38,  G3V2L9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM