Aliases for STAC3 Gene
External Ids for STAC3 Gene
Previous GeneCards Identifiers for STAC3 Gene
The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy. [provided by RefSeq, Nov 2013]
GeneCards Summary for STAC3 Gene
STAC3 (SH3 And Cysteine Rich Domain 3) is a Protein Coding gene. Diseases associated with STAC3 include Myopathy, Congenital, Bailey-Bloch and Stac3 Disorder. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is STAC.
UniProtKB/Swiss-Prot Summary for STAC3 Gene
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 (PubMed:23736855, PubMed:29078335). 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 (PubMed:29078335).