IDC10 Code = G71.2
Genomic coordinate (human 12:57,243,458 STAC3).
Cytoband (human 12q13.3 STAC3 ).
Intraband%= 69.6% STAC3
OMIM’ genes @ 12q13.3 = 25 genes.
ClinVar = 320 reported STAC3 variants.
Hyperbolic Umbilic Chromosome-12 is 1,200 genes.
Chromosome-12 Cytoband: WG2B2GC_CBG5B2G6 (12/29)
“Native American Myopathy”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (STAC3)
INTRODUCTION.
Congenital myopathy type-13 known as Native American myopathy, is an autosomal recessive disorder characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia provoked by anesthesia. It was first reported in the Lumbee Indian tribe in North Carolina.
STAC3 refers to both a human gene (SH3 and cysteine-rich domain-containing protein-3) and its associated genetic medical condition, STAC3 disorder, which isvhistorically known as Native American myopathy.
The STAC3 protein is a critical component of the excitation-contraction (E-C) coupling machinery in skeletal muscle cells. It bridges the electrical signals from the nervous system to the physical release of calcium ions, which tells muscles when to contract and move.
