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Scn5a encodes the alpha subunit of the type V voltage-gated sodium channel. These channels, composed of one alpha and one or two beta subunits, mediate changes in cell permeability to sodium ions that are essential for the generation of action potentials. The alpha subunit alone has been shown to generate a functional channel in vitro, but it's kinetic properties are modulated by beta subunits. The type V channel has been shown to be tetrodotoxin-resistant. Scn5a null mice experience intrauterine lethality. Mutations in the SCN5A gene are responsible for several heart conditions, including the chromosome 3-linked form of long LQT and Brugada syndrome.
Gene Name: | sodium channel, voltage-gated, type V, alpha subunit |
Family/Subfamily: | Ion Channel , Sodium channel - voltage-gated |
Synonyms: | SCN5A, CDCD2, CMPD2, HB1, HB2, HH1, HBBD, Nav1.5, IVF, RSKM2X, SCAL, Scn2x, LQT3, SSS1, MH1, VF1, PFHB1, RATRSKM2X, SkM2, CMD1E, ICCD, RH1, RSkM2 |
Target Sequences: | NM_000335 NP_000326.2 Q14524 |
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