STAC3 gene

SH3 and cysteine rich domain 3

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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 (in vitro) (PubMed:29078335).

From NCBI Gene:

  • Native American myopathy

From UniProt:

Native American myopathy (NAM): A disease characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia provoked by anesthesia. [MIM:255995]

Cytogenetic Location: 12q13.3, which is the long (q) arm of chromosome 12 at position 13.3

Molecular Location: base pairs 57,243,453 to 57,251,193 on chromosome 12 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 12q13.3, which is the long (q) arm of chromosome 12 at position 13.3