Gene

Scn1b

Species
Mus musculus
Symbol
Scn1b
Name
sodium channel, voltage-gated, type I, beta
Synonyms
None
Biotype
protein coding gene
Automated Description
Enables sodium channel inhibitor activity. Involved in several processes, including membrane depolarization during cardiac muscle cell action potential; regulation of sodium ion transport; and regulation of ventricular cardiac muscle cell membrane repolarization. Acts upstream of or within several processes, including corticospinal neuron axon guidance; neuronal action potential propagation; and positive regulation of neuron projection development. Located in T-tubule; intercalated disc; and node of Ranvier. Part of voltage-gated sodium channel complex. Is expressed in heart and telencephalon. Used to study generalized epilepsy with febrile seizures plus. Human ortholog(s) of this gene implicated in Brugada syndrome 5; developmental and epileptic encephalopathy 52; familial atrial fibrillation; and generalized epilepsy with febrile seizures plus 1. Orthologous to human SCN1B (sodium voltage-gated channel beta subunit 1).
MGI Description
PHENOTYPE: Homozygous inactivation of this locus results in defects in neuronal excitability, and nodal architecture. Homozygous null mice are growth retarded, exhibit spontaneous generalized seizuress, and die prior to weaning. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10546
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Paralogy

Function - GO Annotations

Pathways

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Phenotypes

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    Disease Associations

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    Alleles and Variants

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      Transgenic Alleles

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      (carrying the transgene)
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCm39
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          Sequence Details

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          Expression

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          Molecular Interactions

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            Genetic Interactions

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