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The nuclear targeting properties of the truncated beta(4b(1-481)) subunit in tsA (show PRDX2 Proteins)-201 cells, skeletal myotubes, and in hippocampal neurons, were investigated.
Genome-wide association studies identify CACNB4 mutation releated to juvenile myoclonic epilepsy.
Cacnb4 directly couples electrical activity to gene expression, a process defective in juvenile epilepsy
The Ca2 (show CA2 Proteins)+ channel beta4c subunit interacts with heterochromatin protein 1 gama via a PXVXL binding motif.
CACNB4 is associated with acute lung injury in mice
The novel nucleotide substitution T87C (D29D)in CACNB4 was observed in 2 migrainous vertigo patients and was not present in control DNA samples.
No pathogenic mutation were identified in CACNB4.
proband identified with severe myoclonic epilepsy in infancy heterozygous for de novo SCN1A (show SCN1A Proteins) nonsense mutation & CACNB4 missense mutation (R468Q); greater Ca(v)2.1 (show CACNA1A Proteins) currents caused by the mutation may increase neurotransmitter release in excitatory neurons
Cacnb4 is associated with acute lung injury
neither Ca(V)beta3 (show CACNB3 Proteins) nor Ca(V)beta4 are indispensable for hair cell Ca(2 (show CA2 Proteins)+) currents but contribute to the overall current properties
Paroxysmal dyskinesias as well as absence epilepsy, chronic ataxia, and hypoactivity noted in the lethargic mouse mutant with CCHB4 gene mutation
This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE) and juvenile myoclonic epilepsy (JME). Multiple transcript variants encoding different isoforms have been found for this gene.
calcium channel, voltage-dependent, beta 4 subunit
, voltage-dependent L-type calcium channel subunit beta-4
, voltage-gated calcium channel beta 4.1 subunit
, voltage-dependent L-type calcium channel subunit beta-4-like
, calcium channel voltage-dependent subunit beta 4
, dihydropyridine-sensitive L-type, calcium channel beta-4 subunit
, voltage-dependent calcium channel beta 4 subunit
, calcium channel beta 4 subunit