STAC3
An Error has occurred retrieving Wikidata item for infobox SH3 and cysteine-rich domain-containing protein 3 is a protein that in humans is encoded by the STAC3 gene. STAC3 has been shown to be associated with the a special form of myopathy known as Native American myopathy (NAM), a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.[1] It was first identified through a genetic screen in zebrafish and was shown to be a component of the excitation contraction coupling machinery, followed by it being mapped to the region of the human genome which had been shown to be associated with the defects observed in NAM.[2]
References
- ↑ "STAC3 Disorder". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program – via National Institutes of Health.
- ↑ Horstick EJ, Linsley JW, Dowling JJ, Hauser MA, McDonald KK, Ashley-Koch A, et al. (2013). "Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy". Nat Commun. 4: 1952. Bibcode:2013NatCo...4.1952H. doi:10.1038/ncomms2952. PMC 4056023. PMID 23736855.