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单词 scn4a
释义

SCN4A


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.

SCN4A


AcronymDefinition
SCN4A➣Skeletal Muscle Sodium Channel Gene
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