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:

In skeletal muscles contraction, may play a role in neuromuscular synaptic transmission.

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 108, GRCh38.p7) (NCBI)

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