SCN4A


Also found in: Acronyms.

SCN4A

A gene on chromosome 17q23.3 that encodes an alpha subunit of a transmembrane glycoprotein complex, which forms a voltage-gated sodium channel. The SCN4A protein product is expressed in skeletal muscle.

Molecular pathology
SCN4A mutations are linked to various myotonic and periodic paralysis disorders.
References in periodicals archive ?
All these demonstrate the considerable phenotype variability of SCN4A mutations.
P1158A in SCN4A wasfirst explored in our patients with MC.
Apos os procedimentos previamente descritos, foi possivel identificar os genotipos de cada individuo para o gene alvo e assim determinar a prevalencia da mutacao no gene SCN4A na populacao amostrada.
A prevalencia da mutacao no gene SCN4A responsavel pela HYPP foi de 4,2%.