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  • Alternate specimens:
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CACNB4

Alias

CAB4; CACNLB4; EA5; EIG9; EJM; EJM4; EJM6

Associated disorders

The CACNB4 gene currently has no well-established disease association; however, there is limited evidence supporting a correlation with autosomal dominant idiopathic generalized epilepsy (PMID: 10762541).

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CACNB4

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Invitae tests that include this gene:

Invitae Epilepsy Panel up to 183 genes

Voltage-gated calcium channels allow calcium ions into neurons after the application of a current, as in the case of neuron firing (depolarization). The CACNB4 gene encodes a beta subunit of a voltage-gated calcium channel that is required for neurotransmitter release at synapses. Upon stimulation, certain isoforms of CACNB4 translocate to the nucleus and interact with epigenetic machinery to alter gene expression (PMID: 22892567, 24453333)

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
CACNB4 NM_000726.3