Primary structure of the adult human skeletal muscle voltage-dependent sodium channel.

Article Details

Citation

George AL Jr, Komisarof J, Kallen RG, Barchi RL

Primary structure of the adult human skeletal muscle voltage-dependent sodium channel.

Ann Neurol. 1992 Feb;31(2):131-7.

PubMed ID
1315496 [ View in PubMed
]
Abstract

The gene encoding the principal voltage-dependent sodium channel expressed in adult human skeletal muscle (SCN4A) has recently been linked to the pathogenesis of human hyperkalemic periodic paralysis and paramyotonia congenita. We report the cloning and nucleotide sequence determination of the normal product of this gene. The 7,823 nucleotide complementary DNA, designated hSkM1, encodes a 1,836 amino acid protein that exhibits 92% identity with the tetrodotoxin-sensitive rat skeletal muscle sodium channel alpha subunit, but lower homology with either the human heart sodium channel or with other sodium channels from immature rat muscle or rat brain. Specific hSkM1 RNA transcripts are expressed in adult human skeletal muscle but not in heart, brain, or uterus. The SCN4A gene product, hSkM1, is the human homologue of rSkM1, the tetrodotoxin-sensitive sodium channel characteristic of adult rat skeletal muscle. This structural information should provide the necessary backdrop for identifying and evaluating mutations affecting the function of this channel in the periodic paralyses.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Sodium channel protein type 4 subunit alphaP35499Details