SH3 and cysteine-rich domain-containing protein 3 is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respon ...

that in humans is encoded by the STAC3

gene In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...

. 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 Arthrogryposis (AMC) describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally meaning "curving of joints" (', "joint"; ', late Latin form of late Greek ', "hooking"). Children born with one ...

kyphoscoliosis Kyphoscoliosis describes an abnormal curvature of the spine in both a coronal and sagittal plane. It is a combination of kyphosis and scoliosis. This musculoskeletal disorder often leads to other issues in patients, such as under-ventilation of ...

, short stature, cleft palate,

ptosis Ptosis (from the Greek: πτῶσις 'falling', 'a fall', 'dropped') refers to droopiness or abnormal downward displacement of a body part or organ. Particular cases include: * Ptosis (eyelid) * Ptosis (chin) * Ptosis (breasts) * Visceroptosis, ...

and susceptibility to malignant hyperthermia during anesthesia. It was first identified through a

genetic screen A genetic screen or mutagenesis screen is an experimental technique used to identify and select individuals who possess a phenotype of interest in a mutagenized population. Hence a genetic screen is a type of phenotypic screen. Genetic screens ...

in zebrafish and was shown to be a component of the

excitation contraction coupling Muscle contraction is the activation of tension-generating sites within muscle cells. In physiology, muscle contraction does not necessarily mean muscle shortening because muscle tension can be produced without changes in muscle length, such as ...

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.

References

{{Reflist Human proteins