STAC3

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.

Full Name

SH3 And Cysteine Rich Domain 3

Function

Required for normal excitation-contraction coupling in skeletal muscle and for normal muscle contraction in response to membrane depolarization. Required for normal Ca2+ 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).

Biological Process

Biological Process neuromuscular synaptic transmissionManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of protein localization to plasma membraneISS:UniProtKB
Biological Process positive regulation of voltage-gated calcium channel activityISS:UniProtKB
Biological Process skeletal muscle contractionManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process skeletal muscle fiber developmentIEA:Ensembl

Cellular Location

Cytoplasm
Cell membrane, sarcolemma
Cell membrane, sarcolemma, T-tubule
Co-localizes with CACNA1S and CACNA1C on T-tubules.

Involvement in disease

Myopathy, congenital, Bailey-Bloch (MYPBB):
An autosomal recessive disease characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia provoked by anesthesia.